ESPE Abstracts

Contents

• Plenary Lectures
• • Genetic and environmental determinants of type 1 diabetes 1
  • • Genetic and environmental determinants of type 1 diabetes

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  • New advances in monogenetic diabetes 1
  • • New advances in monogenetic diabetes

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  • New advances in human evolution from the analysis of ancient genomes 1
  • • New Advances on Human Evolution from the Analysis of Ancient Genomes

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  • Genomic diversity in present day humans: Evolutionary aspects 1
  • • Genomic Diversity in Present day Humans: Evolutionary Aspects

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  • Ontogeny of FGF21 in the human: Implications for metabolic health 1
  • • Ontogeny of FGF21 in the Human: Implications for Metabolic Health

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  • The complex relationship between the GH/IGF axis and aging and longevity - the interface with diet and mitochondrial peptides 1
  • • The complex Relationship between the GH/IGF Axis and Aging and Longevity - the Interface with Diet and Mitochondrial Peptides

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• Symposia
• • The effect of hormonal abnormalities on neurocognition 3
  • • The Effect of Thyroid Hormones on the Brain

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    • Diabetes Dysglycaemia, Cognition and the Developing Brain

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    • Abstract unavailable

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  • Adipose tissue: Beyond classical concepts 3
  • • Abstract unavailable

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    • Is Brown Adipose Tissue Relevant to Paediatrics?

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    • Lipodystrophies: New Approaches for Diagnostic Workup and Treatment

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  • Disorders of sex development: An update 3
  • • Novel Genes Identified in Male and Female Sex Development

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    • Decision Making in DSD: Development of a Decision Support Tool

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    • Genetic and Environmental Disruption of Testicular Function

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  • Management of thyroid disorders: Current best practice 3
  • • Management of Hyperthyroidism in Children

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    • Abstract unavailable

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    • Abstract unavailable

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  • Developmental Programming: Novel concepts 3
  • • Developmental Programming of Reproductive Function

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    • Transgenerational Developmental Programming of Endocrine Disease

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    • Intergenerational Programming of Metabolic Disease via the Paternal Lineage

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  • Type 2 Diabetes & Obesity 3
  • • Abstract unavailable

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    • Abstract unavailable

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    • From Obesity to Type 2 Diabetes

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  • Hypogonadotropic hypogonadism: diagnostic and therapeutic approach 3
  • • Genetics of Congenital Hypogonadotropic Hypogonadism

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    • Early Therapeutic Approach to the Male Patient with HH

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    • Abstract unavailable

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  • Diabetes & Obesity as infectious diseases 3
  • • Abstract unavailable

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    • Abstract unavailable

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    • Abstract unavailable

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  • Childhood Craniopharyngioma: Recent Advances 3
  • • Abstract unavailable

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    • Abstract unavailable

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    • Abstract unavailable

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  • Growth plate in chronic diseases 3
  • • Molecular Mechanisms of Growth Plate Adaptation During Undernutrition

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    • Molecular Response of the Growth Plate to Inflammatory Cytokines

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    • Bone Health in Chronic Disease

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• New Perspectives
• • New Perspective Session 1 2
  • • Abstract unavailable

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    • Optogenetic Control of Neuroendocrine Hormone Secretion

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  • New Perspective Session 2 2
  • • Engineering Cartilage

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    • Astrocytes and Neuroendocrine Control

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• New Technologies
• • New technologies in imaging 1
  • • New Technologies in Imaging

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  • Next Generation Sequencing: Implementing the 100,000 genome project for treatment of NHS patients Saturday, 3 October 1
  • • Next Generation Sequencing: Implementing the 100,000 genome project for treatment of NHS patients

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• Prize Winners
• • Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration 1
  • • Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration

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  • A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) 1
  • • A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families

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• Working Groups
• • Bone & Growth Plate 5
  • • Short Stature: Blame the Chondrocyte

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    • The Role of NFkB in Growth Plate Chondrogenesis

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    • Genetics of Juvenile Osteoporosis

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    • Bone Tissue Characteristics in Pediatric Bone Disease

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    • Fracture Prevention in Cystic Fibrosis

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  • Diabetes Technology and Therapeutics Thursday, 1 October 7
  • • New Technologies in Treating Patients with Type 2 Diabetes

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    • The Pros and Cons of Using Sulfonylurea before Genetic Testing in Neonatal Diabetes Mellitus

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    • Are Genetic Tests Necessary before Starting the Treatment of a Patient with Neonatal Diabetes? CON

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    • Blood Glucose Monitoring: Which is Better: Continuous Real-Time or Episodic Real-Time on Demand? PRO

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    • Blood Glucose Monitoring: Which is Better: Continuous Real-Time or Episodic Real-Time on Demand? CON

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    • Type 2 Diabetes Mellitus in Adolescence

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    • The Rationale and Potential Role of Surgery in the Treatment of Adolescent Diabetes

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  • DSD 5
  • • Maternal, Placental, and Fetal Steroid Hormone Synthesis: The Key Facts for Understanding DSDs

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    • DSD in Indonesia: The Course of Psychological Development in Late Identified Patients

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    • European Reference Network: Accomplishments of the COST Action DSDnet

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    • I-DSD and I-CAH Registry Update

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    • EU-Study: DSD-LIFE

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  • Obesity 4
  • • The Endocrine Role of Brown Adipose Tissue

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    • A Monomeric Peptide Triagonist for the Treatment of Obesity and Diabetes

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    • Abstract unavailable

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    • Abstract unavailable

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  • Paediatric and Adolescent Gynaecology 5
  • • Impact of Malignancies and Their Treatment on Reproductive Function in Girls

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    • Preservation of Fertility Pre-Therapy

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    • Abstract unavailable

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    • Diagnosis and Management of Endometriosis in Adolescence

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    • Uterus Transplantation with Live Births - An Update

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  • Turner Syndrome 5
  • • Incidental Prenatal Diagnosis of Turner Syndrome, Perspectives of Parents and Professionals

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    • The Challenges of Prenatal Diagnosis: The Experience of a Supportive Group for Parents of Children with TS

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    • Impact of Age at Start and GH Dose for Height Gain and Age at Adult Height in TS Girls

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    • Management of Middle Ear and Hearing Problems in Turner Syndrome - How Can We Do Better?

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    • Report on the Progress and Difficulties on Transdermal Estradiol Supplementation in Europe

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  • Nurse Specialits and Allied Health Professionals 6
  • • Abstract unavailable

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    • Abstract unavailable

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    • Abstract unavailable

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    • Long-Term Outcome of a Male Preschooler Treated for Central Precocious Puberty

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    • Pan-Canadian Experience of Pediatric Endocrine Nurses Assisting Youth Through Gender Transition

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    • Abstract unavailable

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• Free Communications
• • Adrenal 6
  • • A Genomic Atlas of Human Gonad and Adrenal Development

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    • Involvement of the Wnt/[beta]-catenin Pathway, SF1, DAX1 and Stem/Progenitor Cell Markers in Paediatric Adrenocortical Tumors

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    • Aldosterone and Mineralocorticoid Receptor as Inducers of Immune Markers in Peripheral Blood Mononuclear Cells: Beyond Elevating Blood Pressure

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    • Congenital Adrenal Hyperplasia due to 21 OH Deficiency: Final Height Before and After Newborn Screening Era in Emilia-Romagna Region, Italy

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    • Atypical Presentation of Six Patients with Mutations in the Side Chain Cleavage Enzyme CYP11A1

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    • An Update on Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-free Foetal DNA in Maternal Plasma

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  • Bone & Mineral Metabolism 6
  • • Whole Exome Sequencing Analysis of Patients with Autosomal Recessive Hypophophatemic Rickets Identified Mutations in DMP1, ENPP1 and SLC34A3

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    • Identification of Mutations in TBX1 and AIRE in Isolated Hypoparathyroidism Patients

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    • High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

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    • Asfotase Alfa: Sustained Efficacy and Tolerability in Children with Hypophosphatasia Treated for 5 Years

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    • Methyl Donor Deficiency Impairs Differentiation of Pre-Osteoblasts Through Disruption of Functional Interaction Between Peroxisome Proliferator-Activated Receptor-Gamma Coactivator-1 Alpha and Vitamin D Receptor

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    • A Contextual Feature-Based Recognition Approach to Quantify Trabecular Microstructure Using 1.5T Axial-MRI: An Innovative Methodology

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  • Diabetes 6
  • • RNA-Based MAFA Over-Expression is Sufficient to Drive Human Pancreatic Duct-Derived Cells Toward a [beta]-Cell-Like Phenotype

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    • Experience with Molecular Diagnosis in 48 Cases of Neonatal Diabetes Mellitus Using Targeted Next-Generation Sequencing

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    • Clinical Characteristics and Molecular Genetic Analysis of Six Patients with Pancreas Aplasia and Neonatal Diabetes: Predominance of PTF1A-Enhancer Mutations

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    • Wolfram Syndrome: Natural History and Genotype-Phenotype Correlation Based on EURO-WABB Registry Show Gender Differences in Disease Severity

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    • C-Peptide Levels and Glycaemic Control in Children, Adolescents, and Young Adults with Type 1 Diabetes

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    • First Report of Nationwide Incidence and Prevalence of Type 1 Diabetes Among Children in Turkey

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  • Growth 6
  • • Heterozygous Dominant Negative STAT5B Variants associated with Short Stature and GH Insensitivity

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    • A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype

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    • An Updated and Final Analysis of a Randomised Placebo-controlled Trial of the Effect of Oxandrolone and Timing of Pubertal Induction on Final Height in Turner Syndrome

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    • Modulation of GH-1 Splicing as Potential Strategy to Rescue GH Deficiency Type II

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    • Stunted Growth after Inhaled Corticosteroid Use during the First 24 Months of Life

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    • Positive Association between Height and Cancer in the Swedish Population

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  • Endocrine Oncology/Turner 6
  • • Resveratrol Potentiates Growth Inhibitory Effects of Rapamycin in PTEN-deficient Lipoma Cells by Suppressing p70S6 Kinase Activity

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    • MEN1 Syndrome Because of Combined Germline and Somatic Mosaicism, with Important Consequences for Relatives

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    • Screening in Children with Succinate Dehydrogenase B (SDHB) Mutations: a Single Centre's Family Clinic Experience

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    • X Chromosome Gene Dosage and the Risk of Developing Congenital and Acquired Traits in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

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    • Hereditary Turner Syndrome 46,X,rec(X)inv(p21q28) in Six Women and Four Generations: Estimation of Skeletal Effects of GH Treatment

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    • Anti-Mullerian Hormone Levels in Patients with Turner Syndrome: Relation to Karyotype, Pubertal Development and GH Therapy

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  • Gonads & DSD 6
  • • Correlation of AR Expression and AR Transcriptional Activity in Cultured Human Genital Fibroblasts

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    • A Role for DMRT1 in Human Primary Sex-Determination

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    • Establishing the Role of the Steroid Backdoor Pathway for Androgen Biosynthesis in the Human Ovary

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    • Severe 46,XY Disorder of Sex Development due to CBX2 Isoform 2 Mutation is Distinct from CBX2.1 Deficiency and is Likely due to EMX2 Dysregulation in the Human Developing Gonad

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    • Characterisation of Mutations in the Androgen Receptor Identified in 38 Brazilian Families with Complete or Partial Androgen Insensitivity Syndrome

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    • Frequency of Gonadal Tumour in Complete Androgen Insensitivity Syndrome: a Retrospective Case-Series Analysis

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  • Growth-promoting therapies 6
  • • Safety and Effectiveness of Increlex Therapy in Children with Laron Syndrome and Enrolled in the European Increlex Growth Forum Database in Europe

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    • Topicon™ ThermoMatrix™-Mediated Passive Transdermal Delivery of IGF1 Across EpidermFT Full-Thickness Human Skin Equivalent: Towards an Extended-Wear IGF1 Patch

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    • IGF1 Levels, Complex Formation, and IGF-Bioactivity in GH-Treated Children with Prader-Willi Syndrome

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    • A Novel Reversible Albumin-Binding GH Derivative Possesses a Promising Once-Weekly Treatment Profile in Children with GH Deficiency

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    • 12-Month Safety and Efficacy of a Weekly Long-Acting GH (MOD-4023) Compared to Daily Recombinant Human GH Therapy in Pre-Pubertal GH-Deficient Children; Phase 2 Study: Study CP-4-004 Summary

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    • Pharmacokinetic and Pharmacodynamics Modelling of MOD-4023 (a Long-Acting Human GH) in GH-Deficient Children

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  • Obesity - Basic 6
  • • DLK1 Expression in Adipose Tissue Following Fetal Growth Restriction: Relation to Visceral Fat Expansion and Catch-Up Growth in Wistar Rats

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    • Apoptosis Inhibitor of Macrophages: an Anti-Inflammatory Adipocyte Factor in Mild Adolescent Obesity?

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    • Testing the Appetite Suppressing Effects of Vitamin B12 Conjugates of Peptide YY

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    • Severe Early-Onset Obesity Caused By Bioinactive Leptin due to a N103K Mutation

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    • Adipocytokines in Placenta and Cord Blood in Relation to Maternal Obesity, and Foetal and Postnatal Growth of the Child

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    • Metabolic Effects of ADP355, Protein-Based Adiponectin Receptor Agonist, on Mice with High-Fat Diet Induced Fatty Liver Disease

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  • Beta cell disorders 6
  • • Islet [delta]-Cells Contribute to the Pathobiology of Atypical Congenital Hyperinsulinism

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    • A Novel Source of Mesenchymal Stem Cells Lines from the Human Neonatal Pancreas of Patients with Congenital Hyperinsulinism in Infancy

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    • Failure to Terminate Cell Proliferation Contributes to the Pathobiology of Congenital Hyperinsulinism in Infancy

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    • Novel Molecular Mechanisms of Congenital Hyperinsulinism due to Autosomal Dominant Mutations in ABCC8

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    • The Use of Glucagon for Management of Severe-Persistent Hypoglycaemia in Patients with Congenital Hyperinsulinism

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    • Pharmacokinetics of a New Suspension of Glibenclamide for Use in Young Patients and Infants with Neonatal Diabetes

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  • Perinatal Endocrinology 6
  • • Effect of Sonic Hedgehog Signalling on Regulation the Expression of 11[beta]-HSD2 in the Placenta

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    • The Altered Circulating miRNA Profile in Maternal Obesity Associate with Pre- and Post-Natal Growth

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    • Circulating miRNA Expression Profile in Pregestational and Gestational Obesity

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    • Effect of P450 Oxidoreductase Variants on Metabolism by Cytochrome P450 Proteins

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    • Lack of Association between Transient Hypothyroxinaemia of Prematurity and Neurodevelopmental and Behavioral Outcomes in Young Adulthood

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    • Heterozygous Hypomorphic Mutation in the INS Gene could Cause Transient Neonatal Diabetes in Extremely Low Birth Weight Neonates

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  • Neuroendocrinology 6
  • • Mutations in BRAF are Associated with Septo-Optic Dysplasia and Cardiofaciocutaneous Syndrome

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    • Functional Characterisation of a POU1F1 Mutation Unexpectedly Associated with Isolated Growth Hormone Deficiency (IGHD): A Novel Aetiology of IGHD

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    • Next Generation Sequencing: Towards a new Clinical Frontier in the Diagnosis and Management of Pituitary Tumours

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    • Idiopathic Multiple Pituitary Hormone Deficiency (IMPHD): Radiological and Perinatal Factors

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    • Endocrinopathy after Intracranial Germ Cell Tumours (IGCT) is Disease Not Radiation-Related: Two Decades of Surveillance in a Large Tertiary Paediatric Cohort

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    • Long-term Outcome of Patients Treated for Paediatric Cushing's Disease

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  • Obesity - Clinical 6
  • • Evaluation of Cardiovascular Risk in Childhood: Data from a Survey of Dyslipidaemic Children

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    • Soluble CD163, A Circulating Marker of Macrophage Activation, Associates With a Less Favourable Metabolic Profile in Children

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    • Re-Classification of Childhood Obesity by Steroid Metabolomic Disease Signature

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    • RM-493, a Melanocortin-4 Receptor (MC4R) Agonist, is Being Therapeutically Evaluated in Patients with Deficiencies in the Leptin - Proopiomelanocortin (POMC) - MC4R Hypothalamic Pathway, Including Prader-Willi Syndrome (PWS)

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    • Link Between BMI and Insulin Requirement in Children and Young People with Type 1 Diabetes Mellitus

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    • Initial Experience with Endoscopically Placed Duodenal-Jejunal Bypass Liner (Endobarrier) in Morbidly Obese Adolescents

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  • Thyroid 6
  • • Gain of Function STAT3 Mutation in a Boy with Early Onset Autoimmune Diabetes and Thyroid Disease, Prenatal and Postnatal Growth Impairment and Lymphoproliferation

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    • Analysis of Chosen Polymorphisms rs2476601 A/G - PTPN22, rs1990760 C/T - IFIH1, rs179247 A/G - TSHR in Pathogenesis of Autoimmune Thyroid Diseases in Children

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    • Targeted Next-Generation Sequencing Demonstrates High Frequency of 'Dyshormonogenesis Genes' Mutations in Severe Congenital Hypothyroidism

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    • Effects of Initial Levothyroxine Dose on Growth and Neurodevelopmental Outcomes During the First Year of Life in Children with Congenital Hypothyroidism

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    • Effect of 2 Years of Treatment with Levothyroxine on Cardiovascular Risk Factors in Children with Mild Idiopathic Subclinical Hypothyroidism

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    • TRIAC Treatment of Allan-Herndon-Dudley Syndrome (AHDS) due to Defects in Thyroid Hormone Transporter MCT8

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  • Puberty 6
  • • KLB, Encoding the Co-receptor for FGF21, is Mutated in Congenital Hypogonadotropic Hypogonadism

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    • A Mutation in HS6ST1 Causes Self-limited Delayed Puberty

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    • The New Syndrome of Hypogonadotropic Hypogonadism, Arrythmogenic Right Ventricular Dysplasia, Facial Dysmorphism and Absence of Corpus Callosum is Associated to TAX1 Binding Protein 3 Gene Mutation

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    • Genetic Variation of AMH Signaling Affects AMH and Inhibin B Levels in Healthy Peripubertal Girls

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    • Polybrominated Diphenyl Ethers (PBDEs) and Timing of Puberty in Girls

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    • An Evaluation of Glandular Breast Tissue Development and Volume by MRI in 121 Healthy Peripubertal Girls

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  • Late Breaking Abstracts 6
  • • RNA Sequencing Reveals the Pathways Perturbed by Redox Imbalance in Nicotinamide Nucleotide Transhydrogenase Null Mice

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    • Loss of Neuronal Dmxl2 Impairs the Maturation and the Activation of GnRH Neurons: a New Mechanism of GnRH Deficiency

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    • Pharmacokinetic and Pharmacodynamic Studies of Topicon Mediated Patch Delivery of Insulin Glargine in a Streptozotocin-Induced Hairless Rat Model

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    • Long-Term Cognitive Effects of Antenatal Dexamethasone Treatment in Swedish Adolescents with and without CAH

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    • Paternally Inherited IGF2 Mutation Results in Intrauterine and Postnatal Growth Retardation

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    • PROP1 Mutations Cause Hypopituitarism by Disrupting the Transition of Pituitary Stem Cells to Differentiation

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• Poster Presentations Poster Category 1
• • Adrenal 11
  • • Evaluation of Glucose Metabolism and Cardiovascular Risk Factors and Hyperandrogenemia in Prepubertal Girls with Premature Pubarche

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    • Ontogeny of the Synchronisation between Adrenal Clock Genes, Adrenal Steroidogenesis-Related Genes and the Circadian Rhythm of the HPA Axis in Rats

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    • Are Heterozygous Carriers of CYP21A2 Less Vulnerable to Psychological Stress?

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    • Effect of CYP17A1 Inhibitors Orteronel and Galeterone on Adrenal Androgen Biosynthesis

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    • Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes

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    • Genetic Diagnosis of Congenital Primary Adrenal Insufficiency by Massive Parallel Sequencing

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    • Carriers of 21-Hydroxylase Deficiency Demonstrate Increased Psychological Vulnerability to Stress

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    • Cortisol:Cortisone Ratio and Metalloproteinase 9 Emerging as Risk Factors Associated with Paediatrics Hypertension

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    • Founder Effect and the Clinical and Molecular Characteristics in a Cohort of Classical and Non-Classical Congenital Lipoid Adrenal Hyperplasia Due To StAR Mutations

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    • Use of a Cord Blood Fluorescein Labeled Dexamethasone Monocyte Binding Assay to Study the Glucocorticoid Receptor in Neonates

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    • Steroid 11[beta]-Hydroxylase Deficient Congenital Adrenal Hyperplasia with a Reversible Cardiomyopathy Caused by a Novel CYP11B1 Mutation: Report of Three Cases

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  • Bone 11
  • • Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malign Infantile Osteopetrosis

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    • Osteogenesis Imperfecta: A Pilot Trial on Treatment with the RANKL-Antibody Denosumab

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    • No Secular Trend in Vitamin D Levels Over the Past 30 Years in Swedish Children

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    • Lithium Chloride Prevents Glucocorticoid-Induced Growth Failure in Cultured Foetal Rat Metatarsal Bones

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    • Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature

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    • Humanin Prevents Undesired Apoptosis of Chondrocytes without Interfering with the Anti-Inflammatory Effect of Dexamethasone in a Model of Arthritis

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    • Response to Vitamin D Replacement is Determined by Body Surface Area in Children with Vitamin D Deficiency

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    • Bone-Muscle Unit Assessment with pQCT in Children with Inflammatory Bowel Disease Following Treatment with Infliximab

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    • 24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

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    • Effects of Inorganic Phosphate and FGF23 on C2C12 Myoblast Cells

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    • Evaluation of Bone Mineral Density and Microarchitectural Parameters by DXA and HR-PQCT in 36 X-linked Hypophosphatemic Rickets Patients from a Single-Centre Study

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  • Diabetes 33
  • • Safety and Efficacy of Treatment with Long-Acting Lanreotide Autogel® in Early Infancy in Patients with Congenital Hyperinsulinism

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    • The Influence of miR-125b in Pancreatic [beta]-Cell Apoptosis

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    • Lower Bone Mineral Density in Type 1 Diabetes Mellitus (T1DM) is Probably Associated with Wnt/[beta]-Catenin Pathway Downregulation Through Increased Dickkopf-1 Levels

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    • Human Placenta-Derived Mesenchymal Stem Cells: A Novel Protocol for Pancreatic Differentiation

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    • Activation of Insulin Signaling in Gastrocnemius after Central Leptin Infusion is Associated with an Increase in Proliferation and Muscle Fibre Size

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    • Clinical Characterisation of a Novel RFX6 Mutation - A Rare Cause of Neonatal Diabetes Syndrome

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    • Is Reduced Heart Rate Variability Associated with Arterial Stiffness in Youth with Childhood-Onset Type 1 Diabetes Mellitus?

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    • A Novel Mutation in the abcc8 Gene Causing a Variable Phenotype of Impaired Glucose Metabolism in the Same Family

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    • Type 1 Diabetes Onset: A Story of Innate and Adaptive Immune Cells?

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    • Aetiological Diagnosis of Diabetes in Italian Diabetic Children and Adolescents

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    • Improved Genetic Testing for Monogenic Diabetes in the Swiss Population by Targeted Next Generation Sequencing

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    • Low Bone Mineral Density is Associated to Poor Glycemic Control and Increased Dickkopf-1 (DKK-1) Serum Levels in Children and Adolescents with Type 1 Diabetes

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    • Effect of 6 Months Therapy with Metreleptin in an African American Boy with Congenital Generalised Lipodystrophy

      hrp0084p1-35
    • Somatic Paternal UPD on Chromosome 11p15 in Focal Form of Congenital Hyperinsulinism (CHI) Causes Monoallelic Expression of Mutant ABCC8 and KCNJ11

      hrp0084p1-36
    • Hyperthyroidism in 276 Children and Adolescents with Type 1 Diabetes from Germany and Austria

      hrp0084p1-37
    • Metabolic Syndrome Frequency in Longitudinally Followed Children with Premature Adrenarche During Pubertal Ages

      hrp0084p1-38
    • Evaluation of Ability of Urinary Podocalyxin, Nephrin and Liver type Fatty Acid Binding Protein for Early Diagnosis in Renal Injury in Adolescents with Type 1 Diabetes

      hrp0084p1-39
    • Efficacy and Safety of a Fixed Combination of Insulin Degludec/Insulin Aspart in Children and Adolescents with Type 1 Diabetes

      hrp0084p1-40
    • Current Care and Outcomes for Children and Young People with Diabetes in England and Wales: Results from the National Paediatric Diabetes Audit

      hrp0084p1-41
    • Dynamics Perceptions of Their Own Health in the Process of Learning Self-Control Adolescents with Type 1 Diabetes Mellitus

      hrp0084p1-42
    • Evaluation of Median Nerve in Children with Type1 Diabetes using Ultrasonographic Imaging and Electrophysiology

      hrp0084p1-43
    • Is Metabolic Control Affected by Military Service in Young Adults with Type 1 Diabetes?

      hrp0084p1-44
    • Immune/Inflammatory Profile in Children with Type 1 Diabetes Mellitus and Celiac Disease and/or Autoimmune Thyroiditis

      hrp0084p1-45
    • Trends in Insulin Therapy in 50 861 Children and Adolescents with Type 1 Diabetes from Austria and Germany Between 2000 and 2014

      hrp0084p1-46
    • Relative Hypoaldosteronism in a Patient with WOLCOTT-Rallison Syndrome

      hrp0084p1-47
    • Structured Education Programmes for Children with Type 1 Diabetes: a Systematic Review

      hrp0084p1-48
    • Can Hypothalamic Obesity be Treated with Stimulants? Follow Up

      hrp0084p1-49
    • A Feasibility Study of Intra-Gastric Balloons (Supported By a Lifestyle Programme) for the Treatment of Severe Adolescent Obesity: the (Bob) Study

      hrp0084p1-50
    • Distribution of Obesity Indices Among European Preschool Children and Associated Risk Factors: The ToyBox-Study

      hrp0084p1-51
    • A Randomised Trial of the Effects of Perinatal Education of Overweight Pregnant Women to Prevent Childhood Overweight: The ETOIG Study

      hrp0084p1-52
    • Perypheral Neuroblastic Tumours and Immunological Studies in ROHHADNET Syndrome (Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation and NEural Tumour)

      hrp0084p1-53
    • 'BestPWS EU': A Phase 3 Study in Adolescent and Adult Patients With PWS in Europe

      hrp0084p1-54
    • Intrauterine Growth Restriction is Associated with Greater Severity in Childhood Obesity-Associated Metabolic Impairment and Poorer Adult Height Prediction

      hrp0084p1-55
  • DSD 11
  • • Immunohistochemical Detection of Estrogen [alpha] and Androgen Receptors in Genital Tissues in Girls with Congenital Adrenal Hyperplasia

      hrp0084p1-56
    • Attitudes of Parents of Klinefelter Boys and Flemish Paediatricians Towards Neonatal Screening and Fertility Preservation Techniques in Klinefelter Syndrome

      hrp0084p1-57
    • Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

      hrp0084p1-58
    • Novel Genetic Associations in Children with Disorders of Sex Development and Neurodevelopment Disorders - Insights from the Deciphering Developmental Disorders study

      hrp0084p1-59
    • Insight into the Human Ovarian Sex Development Networks

      hrp0084p1-60
    • Current Models of Practice & Professional Development of Clinicians in DSD Centres - Results from an International Survey of Specialist Care for DSD

      hrp0084p1-61
    • Prediction of Germ Cell Cancer Occurrence in Postpubertal Individuals with Androgen Insensitivity Based on Pathological Findings and Cancer Predisposition SNPs

      hrp0084p1-62
    • Gender Identity Prediction in Adulthood by HTP Test (House-Tree-Family) in 46, XY DSD Patients

      hrp0084p1-63
    • MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?

      hrp0084p1-64
    • Subcutaneous Continuous Administration of Recombinant Human Luteinizing and Follicle-Stimulating Hormones is an Effective Treatment for Micropenis During the Mini-Puberty

      hrp0084p1-65
    • 46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication

      hrp0084p1-66
  • Fat 11
  • • miR-146a-Mediated Suppression of the Inflammatory Response in Human Adipocytes

      hrp0084p1-67
    • Leptin Resistance Alteration after Modulation of Dopamine System Funcional Activity in Rat's Diet-Induced Obesity

      hrp0084p1-68
    • Abstract unavailable

      hrp0084p1-69
    • Outcome of Adolescents Undergoing Bariatric Surgery - 1 Year Follow-Up

      hrp0084p1-70
    • Identifying Critical Periods for Maintaining Weight Loss in Obese Children

      hrp0084p1-71
    • Use of Topiramate in Severe Hyperphagia Associated to Neuropsychiatric Features in a Boy with Congenital Proopiomelanocortin Deficiency

      hrp0084p1-72
    • Circulating miR146a and 486-5p are Altered in Obese Children with and Without Non-Alcoholic Fatty Liver Disease (NAFLD) and Correlate with Abdominal Fat and BMI

      hrp0084p1-73
    • Abstract unavailable

      hrp0084p1-74
    • Ghrelin and Brain-Derived Neurotrophic Factor in Children with Prader-Willi Syndrome

      hrp0084p1-75
    • Endothelial Progenitor Cells in Obese Non-Diabetic Children and Adolescents: Relations to Some Metabolic Parameters, Echocardiographic Parameters and Tissue Doppler Imaging

      hrp0084p1-76
    • Evaluation of Adiponectin Concentrations in Obese Children and Its Correlation with Lipid and Carbohydrate Parameters

      hrp0084p1-77
  • Growth Hormone 11
  • • Influence of Genetic Variation on the Response to Recombinant Human Growth Hormone Treatment in Children with GH Deficiency: An Analysis of 13 Single Nucleotide Polymorphisms and the GH Receptor Exon 3 Deletion

      hrp0084p1-78
    • Decrease of Jumping Power in Adolescents with Severe GHD After Stop of GH-Therapy

      hrp0084p1-79
    • Good Clinical Response to the Growth Hormone Therapy in the Patient with Familiar Short Stature Caused by Novel p.Val478Serfs*14 Mutation in ACAN Gene and Isolated Growth Hormone Deficiency

      hrp0084p1-80
    • The Growth Response to Growth Hormone Treatment is Greater in Patients with SHOX Enhancer Deletions Compared to SHOX Defects

      hrp0084p1-81
    • Assessment of Primary Cancers in Growth Hormone-Treated Paediatric Patients Compared with General Population Registries: An Epidemiological Analysis of a Large, Multinational, Prospective Observational Study

      hrp0084p1-82
    • Genetic Markers Contribute to the PREDICTION of Response to GH in Severe but not Mild GH Deficiency

      hrp0084p1-83
    • Disease and Treatment Burden in Children and Adolescents with Growth Hormone Deficiency

      hrp0084p1-84
    • Effects of Growth Hormone Treatment on Immunity

      hrp0084p1-85
    • The Growth Hormone Treatment Results in the Increase of Irisin Concentration in Plasma

      hrp0084p1-86
    • A Novel OTX2 Gene Mutation in a Child with Growth Hormone Deficiency

      hrp0084p1-87
    • The Dose Dependent Effect of Growth Hormone Therapy in Patients with IGF1 Receptor Haploinsufficiency due to Heterozygous Deletion

      hrp0084p1-88
  • Growth 11
  • • Royal Jelly Supplementation Induces the Growth Plate Development and Increases Plasma Growth Hormone and Oestradiol Levels in Prepubertal Rats

      hrp0084p1-89
    • Silver-Russell Syndrome without Body Asymmetry in Three Patients with Duplications of Maternally Derived Chromosome 11p15 Involving CDKN1C

      hrp0084p1-90
    • Mutation in RTTN, a Regulator of Ciliary Function, Causes a Complex Syndrome Characterized by Severe Congenital Microcephaly, Lissencephaly and Profound Growth Failure in Two Siblings

      hrp0084p1-91
    • Chronic Effects of Bisphenol A Administration on Growth Hormone Activity

      hrp0084p1-92
    • Severe IGF1 Deficiency and Multi-Organ Autoimmune Disease Associated with Novel Germline STAT3 Mutations

      hrp0084p1-93
    • Abstract unavailable

      hrp0084p1-94
    • Various Imprinting Disorders Underlying Silver-Russell Syndrome-Compatible Phenotype

      hrp0084p1-95
    • Ligase IV Deficiency Syndrome as a Cause of Microcephalic Primordial Dwarfism in Dizygotic Twins

      hrp0084p1-96
    • High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency

      hrp0084p1-97
    • GH Excess in McCune-Albright Syndrome

      hrp0084p1-98
    • GH Hypersecretion in Children with NF1 and Optic Pathway Gliomas

      hrp0084p1-99
  • Perinatal 11
  • • Atypical Features in Patients with Leprechaunism Suggesting a Wide Clinical Spectrum of Disease

      hrp0084p1-100
    • Does Type 1 Childhood Diabetes Start In Utero?

      hrp0084p1-101
    • The Role of HNF1B in Human Pancreas Development and Diabetes

      hrp0084p1-102
    • Molecular Characterization of a Novel Non-stop KCNJ11 Mutation Associated with a Dual Focal and Diffuse Hyperinsulinaemic Hypoglycaemia Phenotype

      hrp0084p1-103
    • Diazoxide Responsive Congenital Hyperinsulinism in a Patient with Dual Genetic Aetiology (HNF4A and ABCC8 Mutation)

      hrp0084p1-104
    • Fluoxetine Induced Hypoglycaemia in a Patient with Congenital Hyperinsulinism on Lanreotide Therapy

      hrp0084p1-105
    • Influence of Nocturnal Glycaemia on Ventricular Repolarisation and Heart Rate Variability in Prepubertal Children with Type 1 Diabetes

      hrp0084p1-106
    • Changes in Serum Protein Expression in Small-for-Gestational-Age Newborn Infants at Different Gestational Ages

      hrp0084p1-107
    • Liver ER Stress and Intrauterine Growth Retardation in Rats

      hrp0084p1-108
    • Continuous Subcutaneous Infusion of Recombinant LH and FSH During Early Infancy Promotes Testicular Descent in Congenital Hypogonadotropic Hypogonadism

      hrp0084p1-109
    • Neonatal Screening Program for Central Congenital Hypothyroidism

      hrp0084p1-110
  • Puberty 11
  • • Serum Neurokinin B Level can be Used to Differentiate Central Precocious Puberty from Premature Thelarche

      hrp0084p1-111
    • Aetiological Spectrum and Clinical Characteristics of 129 Children with Gonadotropin Independent Precocious Puberty: A Nationwide Cohort Study

      hrp0084p1-112
    • Relevance of Astrocytic Signals for GnRH-Neuronal Function

      hrp0084p1-113
    • Screening of Mutations in Idiopathic Hypogonadotropic Hypogonadism Using a Targeted Next-Generation Sequencing Approach

      hrp0084p1-114
    • Clinical Guidance on 17[beta]-Oestradiol and LH Serum Levels in Girls with Premature Thelarche Based on Clinical Outcome of 129 Girls Aged up to 4 Year with Premature Thelarche in West Sweden

      hrp0084p1-115
    • FSHB/FSHR Genetic Variants alter Serum FSH Levels and Prepubertal Ovarian Follicular Growth in Healthy Girls

      hrp0084p1-116
    • Transient Breast Budding in Healthy Girls is a Frequent Phenomenon: Description of Pubertal Progression and Associations to Gonadotropins, Estradiol and FSHB/FSHR Genetic Polymorphisms

      hrp0084p1-117
    • Specific Hypothalamic Activation Pattern by mGlu5 Receptor Blockade in vivo During Pubertal Development in Female Mice

      hrp0084p1-118
    • Lipid Profiles in Gender Dysphoric Adolescents Treated with GnRH Agonists Alone and in Combination with Cross-Sex Hormones

      hrp0084p1-119
    • A Novel LHX4 Mutation is Associated with Hypogonadotropic Hypogonadism, Not Combined Pituitary Hormone Deficiency

      hrp0084p1-120
    • A Missense Mutation in MKRN3 in a Danish Girl with Central Precocious Puberty and Her Brother with Early Puberty

      hrp0084p1-121
  • Thyroid 11
  • • Congenital Hypothyroidism in Twin Couples and Triplets

      hrp0084p1-122
    • Th17 Cells in Children with Graves' Disease During Methimazole Treatment

      hrp0084p1-123
    • Thyrocytes are Particularly well Protected Against Oxidative Stress Induced by H2O2

      hrp0084p1-124
    • Thyrocyte is Particularly Well Protected Against Oxidative Stress Induced by H2O2

      hrp0084p1-125
    • Characteristics and Outcome of Neonates with Congenital Hypothyroidism Born After In Vitro Fertilisation

      hrp0084p1-126
    • Transient vs Permanent Congenital Hypothyroidism: The Use of Baseline Characteristics and Long-Term Data Can Help Formulate a Practical Prognostic Algorithm

      hrp0084p1-127
    • Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor [alpha] Mutations

      hrp0084p1-128
    • Intelligence and Behaviour in Children and Adolescents with Hashimoto's Thyroiditis

      hrp0084p1-129
    • Brain-Lung-Thyroid Syndrome - Update on the Clinical Spectrum of a Heterogeneous Disorder

      hrp0084p1-130
    • Increased Detection Rate of Paired Box Domain Gene Mutations by Application of Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Primary Congenital Hypothyroidism and Thyroid Dysgenesis

      hrp0084p1-131
    • Severe Hyperthyroidism in an Infant Revealed a Familial Non-Autoimmune Hyperthyroidism with Novel Heterozygous Thyrotropin Receptor Gene Mutation

      hrp0084p1-132
  • Turner & Puberty 11
  • • Improved Determination of Total Serum Estrogenic Bioactivity: Characterisation of Oestrogenic Activity Modulators

      hrp0084p1-133
    • Co-Existing Variants of FOXE1 and BMP15 Genes in Young Females with Primary Ovarian Insufficiency: Evidence of Digenic Inheritance

      hrp0084p1-134
    • Sex Hormones and Gonadal Size in Pubertal Girls Born Small or Appropriate for Gestational Age

      hrp0084p1-135
    • The Eap1 Promoter is Differentially Methylated at the Onset of Puberty in Normal Weight and Obese Female Rats

      hrp0084p1-136
    • Normalization of Puberty and Adult Height in Girls with Turner Syndrome, Randomised Trials vs Age and Dose at GH-Start

      hrp0084p1-137
    • Weight Gain in Turner Syndrome: Association to Puberty Induction?

      hrp0084p1-138
    • A Study of Arterial Stiffness in Turner Syndrome Patients Using Cardio-Ankle Vascular Index

      hrp0084p1-139
    • Impaired Motor Function in Turner Syndrome: What is the Relationship to Performal Intelligence Scores?

      hrp0084p1-140
    • Adult Height after Growth Hormone Treatment and its Association with X Chromosome Dosage in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

      hrp0084p1-141
    • Fracture Incidence is Not Associated with the Six-Year Development of Trabecular BMD in Paediatric Turner Syndrome Patients

      hrp0084p1-142
    • Is Aortic Stiffness Increased in Young Turner Syndrome Patients?

      hrp0084p1-143
  • Miscelleaneous 22
  • • Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort

      hrp0084p1-144
    • Clinical Follow-up of the First SF-1 Deficient Female Patient

      hrp0084p1-145
    • Salt Sensitivity of Blood Pressure at Age 7-8 Years in Preterm Born Children

      hrp0084p1-146
    • A New LC-MS/MS Assay for the Analysis of Sulfated Steroids in Human Serum: Quantification of Cholesterol Sulfate, Pregnenolone Sulfate, 17-Hydroxypregnenolone Sulfate and Androgen Sulfates

      hrp0084p1-147
    • The Analysis of Occurrence the Zinc Transporter Antibodies ZnT8 in Children with Graves' Disease and Hashimoto's Thyroiditis

      hrp0084p1-148
    • Recombinant Parathyroid Hormone (1-34) Replacement Treatment of Hypoparathyroidism in the Alfacalcidol-Resistant Patient with Severe Autoimmune Polyendocrinopathy Syndrome Type 1

      hrp0084p1-149
    • Severe Immunodysregulation Phenotypes Including Infancy-Onset Type 1 Diabetes Mellitus in Two Siblings with a Homozygous Mutation in the LPS-Responsive Beige-Like Anchor (LRBA) Gene

      hrp0084p1-150
    • A Case of Autoimmune Polyglandular Syndrome Type I Presenting as Progressive Generalised Lipodystrophy in a 15-month-old Child

      hrp0084p1-151
    • Noonan Syndrome-Causing SHP2 Mutants Inhibit Murine Growth Plate Chondrogenesis and Bone Development: Role of Ras/MAPK Hyperactivation

      hrp0084p1-152
    • Growth Curves for Height, Weight, BMI and Head Circumference in Children with Achondroplasia

      hrp0084p1-153
    • Novel Compound Heterozygous BMP1 Variants Associated with Osteogenesis Imperfecta

      hrp0084p1-154
    • Prospective Cognitive Assessment in Children with Craniopharyngioma Identifies Dysfunction at Diagnosis, After Conservative Surgery and Before Adjuvant Radiation

      hrp0084p1-155
    • Cushing Syndrome due to Adrenocortical Carcinoma in a 3-month-old Infant with a Large Interstitial Deletion of Chromosome 5q Including the APC Gene

      hrp0084p1-156
    • How do Adolescent Minors Banking Sperm Before Cancer Therapy Subsequently use the Fertility Service? A Post Banking Re-Evaluation

      hrp0084p1-157
    • The Expression of Related Neuroendocrine Factors with Puberty Onset in Rat at Different Developmental Stages

      hrp0084p1-158
    • FOXL2 Gene and Combined Pituitary Hormone Deficiency: A Possible Link

      hrp0084p1-159
    • Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

      hrp0084p1-160
    • Screening of IGSF1 in Patients with Central Hypothyroidism and GH Deficiency, Participating in the Dutch HYPOPIT Study

      hrp0084p1-161
    • Congenital Hypothyroidism: Reduction in the Female to Male Ratio Following the Decrease of the TSH Cut-off Point Used for Neonatal Screening

      hrp0084p1-162
    • Paediatric Thyroid Nodule Score: Derivation and Validation of a Predictive Score for Thyroid Nodule Assessment in Children

      hrp0084p1-163
    • Practical Application of Elastography in the Diagnosis of Thyroid Nodules in Children

      hrp0084p1-164
    • Higher Urinary Iodine Levels Iodine Correlates with Lower Systolic Blood Pressure in Chilean Schoolchildren

      hrp0084p1-165
• Poster Category 2
• • Adrenals 38
  • • Late Diagnosis of Adrenal Insufficiency Caused by Novel Compound Heterozygous Mutations in Proopiomelanocortin

      hrp0084p2-166
    • Hyponatraemia Secondary to Exudative Eczema

      hrp0084p2-167
    • The Natural Mutant Receptor hGR[alpha]T556I Causes Primary Generalised Glucocorticoid Resistance Through Decreased Affinity for the Ligand and Impaired Interaction with the GRIP1 Coactivator

      hrp0084p2-168
    • References Values Under Synacthen Test for Six Steroids in Serum by LC-MS/MS

      hrp0084p2-169
    • Usefulness of Salivary Cortisol Levels in Secondary Adrenal Insufficiency in Paediatric Population

      hrp0084p2-170
    • Acute Adrenal Failure in a Term Newborn with Congenital Cytomegalovirus Infection: Case Description and Review of the Literature

      hrp0084p2-171
    • Resveratrol Disrupts Steroidogenesis in Human Foetal Adrenals

      hrp0084p2-172
    • Normal Ranges of Basal and Glucagon-Stimulated Free Cortisol in Children

      hrp0084p2-173
    • Clinical, Biochemical and Molecular Characteristics of the Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia

      hrp0084p2-174
    • Abnormal Circadian Blood Pressure Profile in Patients with Congenital Adrenal Hyperplasia without Overt Hypertension

      hrp0084p2-175
    • Triple A Syndrome - the Second Most Common Cause of Chronic Adrenal Insufficiency in North Africa?

      hrp0084p2-176
    • Analysis the Relationship between Clinical Characteristics and Genotype of Six Cases of Bartter Syndrome and Gitelman Syndrome in Children

      hrp0084p2-177
    • Genotypic Heterogeneity and Clinical Phenotype in Two Patients with Triple A Syndrome (AAAS)

      hrp0084p2-178
    • Primary Adrenal Insufficiency: About a Paediatric Series

      hrp0084p2-179
    • High-Dose Hook Effect in 17- Hydroxyprogesterone Assay in 21-Hydroxylase Deficiency

      hrp0084p2-180
    • Baseline Cortisol Concentrations Predict Positively and Negatively Anti- and Pro- Oxidation, Respectively that are Measured Following an Acute Aerobic Exercise Bout in Pre- and Early Pubertal Normal-Weight and Obese Boys

      hrp0084p2-181
    • Insulin Sensitivity and Adipocytokynes in Children with Classical Congenital Adrenal Hyperplasia

      hrp0084p2-182
    • 24-H Urinary Free Cortisol as a Screening Test for Cushing's Syndrome in Children

      hrp0084p2-183
    • Familial Hyporeninemic Hyperkalemia and Hypertension (Pseudohypoaldosteronism Type II) in Infancy and Childhood

      hrp0084p2-184
    • Severe Craniosynostosis Syndrome Associated to Salt Wasting Congenital Adrenal Hyperplasia

      hrp0084p2-185
    • Testicular Adrenal Cell Rest Tumours are not Associated with 21 Hydroxylase Mutations or Therapy Compliance in Boys with Classic form of CAH

      hrp0084p2-186
    • A Large Family with a Novel Mutation in the SCNN1A Gene Causing a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1)

      hrp0084p2-187
    • Phosphoglucomutase-1 Deficiency Presented as Adrenal Insufficiency

      hrp0084p2-188
    • The Aetiological Spectrum of Congenital Adrenal Hyperplasia Based on Molecular Genetic Analyses

      hrp0084p2-189
    • Higher Serum DHEAS Concentration is Associated with Lower Plasma LDL Cholesterol Concentration in Children

      hrp0084p2-190
    • Central Adrenal Insufficiency is not a Common Feature in CHARGE Syndrome

      hrp0084p2-191
    • Baseline Adrenal Function by Measurement of Long-term Cortisol Levels in Scalp Hair of Asthmatic Children Using Inhaled Corticosteroids Equals Healthy Controls

      hrp0084p2-192
    • Adrenal Function in Children Born Small for Gestational Age

      hrp0084p2-193
    • Cushing's Syndrome in Children and Adolescents: About a Paediatric Series

      hrp0084p2-194
    • Serum Cortisol and Cortisone Ratio as Sensitive Tool to Identify Subjects With Severe or Partial 11[beta]-Hydroxysteroid Dehydrogenase Type 2 Deficiency

      hrp0084p2-195
    • The Role of the Nurse Practitioner in Optimising Care for Children with Congenital Adrenal Hyperplasia

      hrp0084p2-196
    • Evaluation of Medical Treatment in the First 2 Years of Life with a New Dutch National Longitudinal Registry for Children with Congenital Adrenal Hyperplasia (CAH)

      hrp0084p2-197
    • Incidence of Nonclassical 21-Hydroxylase Deficiency in Russian Population as Estimated by the Carrier Frequency of V281l Mutation

      hrp0084p2-198
    • Cardio-Metabolic Risk Factors in Children and Adolescents with Classical 21-Hydroxylase Deficiency

      hrp0084p2-199
    • A Novel Mutation (c.delG209) in the Proopiomelanocortin Gene in a Child with Early-onset Obesity

      hrp0084p2-200
    • Improved Linear Growth in Patients with Classical Congenital Adrenal Hyperplasia

      hrp0084p2-201
    • Autoimmune Polyglandular Syndrome Type 1 in Russia: Clinical Experience in 112 Patients

      hrp0084p2-202
    • Autoimmune Encephalitis - A Newly Recognised Clinical Manifestation of Autoimmune Polyendocrine Syndrome Type 1?

      hrp0084p2-203
  • Bone 39
  • • Children with Coeliac Disease on Gluten Free Diet have Normal Bone Mass, Geometry and Muscle Mass

      hrp0084p2-204
    • Mechanism of Bone Disease in Prader-Willi Syndrome

      hrp0084p2-205
    • Hereditary Vitamin D-Resistant Rickets: Report of Four Cases with Successful Use of Intermittent Intravenous Calcium Via Peripheral Route

      hrp0084p2-206
    • A Novel PRKAR1A Gene Mutation with Mild Brachydactyly

      hrp0084p2-207
    • Bone Mineral Density in Children and Adolescents with Vertical HIV Infection

      hrp0084p2-208
    • Sclerostin and Its Associations with Energy Metabolism in Children and Adolescents

      hrp0084p2-209
    • Genetic and Epigenetic Alterations at the GNAS Locus and Clinical Consequences in Pseudohypoparathyroidism: A New Healthcare Pathway

      hrp0084p2-210
    • Fibrous Cortical Defects and Non-Ossifying Fibromas in Patients with Precocious Puberty

      hrp0084p2-211
    • The Effect of High Dose Oral 17sz Estradiol on Bone Mineralization and Body Composition in Young Women with Turner Syndrome - A 5 Year Randomized Controlled Clinical Trial

      hrp0084p2-212
    • Comparison of Cost Benefits and Efficacy of Zoledronic Acid and Pamidronate in the Treatment of Osteogenesis Imperfecta in Children

      hrp0084p2-213
    • TmP/GFR is a Useful Marker in Making a Clinical Diagnosis of X-Linked Hypophosphataemic Rickets Caused by the PHEX Gene Mutation

      hrp0084p2-214
    • Whole-Body Vibration Training Improves Physical Function and Increases Bone and Muscle Mass in Youngsters with Mild Cerebral Palsy

      hrp0084p2-215
    • A Case with Acrodysostosis and Hormone Resistance

      hrp0084p2-216
    • The Spectrum of Molecular Defects in 64 Patients with Hypophosphatemic Rickets Identified by Targeted Next-Generation Sequencing

      hrp0084p2-217
    • Nephrocalcinosis and Nephrolithiasis in 36 X-Linked Hypophosphataemic Rickets Patients: Diagnostic Imaging and Evaluation of Risk Factors in a Single-Centre Study

      hrp0084p2-218
    • Early Increase of the Bone Formation Marker PINP is in a Higher Degree Related to Growth Response Compared to Bone Mineralization in GH Treated Prepubertal Children

      hrp0084p2-219
    • Genotype and Phenotype Characteristics in 22 Patients with Vitamin D Dependent Rickets Type I

      hrp0084p2-220
    • Evidence of a Link Between Resting Energy Expenditure and Bone Remodelling, Glucose Homeostasis and Adipokine Variations in Adolescent Girls with Anorexia Nervosa

      hrp0084p2-221
    • Bone Density, HIV Infection and Antiretroviral Treatment: A 10-Year Follow-Up in Young Patients

      hrp0084p2-222
    • Refractory Hypercalcaemia of Malignancy: Responsiveness to Denosumab and Zoledronate

      hrp0084p2-223
    • Fractures in Boys with Duchenne Muscular Dystrophy and their Relationship to Age

      hrp0084p2-224
    • Early Detection of Increased Bone Turnover among Children and Adolescents with Type 1 Diabetes Mellitus

      hrp0084p2-225
    • Association between Oxidative Stress and Bone Turnover Markers in the Obese Children

      hrp0084p2-226
    • Longitudinal Bone Development in Patients with Classical Congenital Adrenal Hyperplasia: Data Using Peripheral Quantitative Computed Tomography

      hrp0084p2-227
    • Online Survey to Characterise the Burden of Illness in Children with X-Linked Hypophosphatemia

      hrp0084p2-228
    • Comparison of the Response to Bisphosphonate Treatment between Acute Lymphoblastic Leukaemia and Osteogenesis Imperfecta Type I

      hrp0084p2-229
    • The Relationship between Serum 25-Hydroxy Vitamin D and Parathyroid Hormone in Children

      hrp0084p2-230
    • Cinacalcet Treatment in Girls with Hereditary Vitamin D Resistant Rickets

      hrp0084p2-231
    • Regulation of Bone Growth Via Ligand-Specific Activation of Oestrogen Receptor [alpha]

      hrp0084p2-232
    • Teriparatide (rhPTH) Therapy in a Boy with Hypoparathyroidism-Deafness-Renal Dysplasia Syndrome due to GATA3 Mutation

      hrp0084p2-233
    • Variable Degree of Hormonal Resistance in Patients with Progressive Osseous Heteroplasia

      hrp0084p2-234
    • Assessment of Foramen Magnum in Early Infancy is Efficient for Patients with Achondroplasia

      hrp0084p2-235
    • Body Composition Measures on Different DEXA Scanners are not the Same

      hrp0084p2-236
    • Intrauterine Growth Restriction, Gestational Age, Steroidal Prophylaxis and Breastfeeding Influence Bone Mass in Prepubertal Children

      hrp0084p2-237
    • Can Vitamin D Deficiency Cause Prolongation in Visual Evoked Potentials?

      hrp0084p2-238
    • Novel CYP27B1 Gene Mutations in Children with Vitamin D-Dependent Rickets Type 1A

      hrp0084p2-239
    • Size-Corrected Bone Mineral Density is not Affected by Haematopoietic Stem Cell Transplantation and Total Body Irradiation in Leukaemia Survivors

      hrp0084p2-240
    • Quantitative Sonometeric Bone Age as a Function of Height and BMI

      hrp0084p2-241
    • The Association of Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorders with the Mean Platelet Volume and Vitamin D

      hrp0084p2-242
  • Diabetes 60
  • • Dyslipidaemia in Children with Diabetes

      hrp0084p2-243
    • Diabetes Mellitus and Hypoparathyroidism in a Girl with Mitochondrial Disease

      hrp0084p2-244
    • Association of Ghrelin Levels and Insulin Resistance in Small for Gestational Age Rats

      hrp0084p2-245
    • Protective Effects of Combined Intervention with Adenovirus Vector Mediated IL-10 and IGF1 Genes on Endogenous Islet [beta] Cells in Nonobese Diabetes Mice with Onset of Type 1 Diabetes Mellitus

      hrp0084p2-246
    • A Case of Donohue Syndrome: New Genetic Mutation and Added Phenotypic Characteristics

      hrp0084p2-247
    • Genetic Analysis and Follow-Up of 23 Neonatal Diabetes Mellitus Patients in China

      hrp0084p2-248
    • Level of Knowledge about Type I Diabetes Mellitus among Nurses Employed at Endocrinological Dispensaries

      hrp0084p2-249
    • Recombinant Human IGF1 Treatment in Patients with Insulin Receptor Mutations Resulting in Donohue Syndrome: A 10-Year Experience in a Tertiary Centre

      hrp0084p2-250
    • Sick Day Rule: Survey of Parents of Children with Type 1 Diabetes (Experience and Knowledge)

      hrp0084p2-251
    • Brachial Flow Mediated Dilation and its Relation to Osteoprotegerin in Type 1 Diabetes Mellitus

      hrp0084p2-252
    • Value of the Intrarenal Arterial Resistivity Indices and Different Renal Biomarkers for Early Identification of Diabetic Nephropathy in Type 1 Diabetic Patients

      hrp0084p2-253
    • Can We Rely on Finger Stick Haemoglobin A1c? Comparison of Levels Assayed by DCA 2000 with IFCC Reference Method in a Paediatric Cohort

      hrp0084p2-254
    • Significant Impact of Nocturnal Melatonin Secretion on Obesity-Related Metabolic Disorders in Children and Adolescents

      hrp0084p2-255
    • Exposure to Phthalates and Phenols in Relation to Gestational Blood Glucose Homeostasis

      hrp0084p2-256
    • Developing a Targeted, Mobile-Health Technology (E-Book) to Promote Self-Care During Diabetes Transition

      hrp0084p2-257
    • Cardiac Autonomic Neuropathy is Highly Predictive for Survival in Children with Mauriac Syndrome

      hrp0084p2-258
    • Predictors of Cystic Fibrosis-Related Diabetes (CFRD) in Patients with cf and Pancreatic Insufficiency

      hrp0084p2-259
    • Adherence to Diabetes Care in Children and Adolescents with Type 1 Diabetes Mellitus in Spain: Results from the Chrystal Study

      hrp0084p2-260
    • Gaining from Patient Experience on a Local Level: The Introduction of Annual Questionnaires for Children and Teenagers with Diabetes

      hrp0084p2-261
    • Factitious Administration of Analogue Insulin to a 2-Years-Old Child

      hrp0084p2-262
    • Insulin Sensitivity in Adolescents with Gender Dysphoria During Puberty Suppressing Therapy with GnRH Agonists

      hrp0084p2-263
    • Ethnic Variation in the Correlation of Waist Circumference to Daily Insulin Requirement in Children with Type 1 Diabetes

      hrp0084p2-264
    • Importance of Thrombocyte Volume Parameters in Type 1 Diabetes Mellitus Patients with and without Clinical Findings of Diabetic Ketoacidosis

      hrp0084p2-265
    • Increased Arterial Wall Stiffness in Children with Type 1 Diabetes and Poor Metabolic Control: An Early Marker of Vascular Complications?

      hrp0084p2-266
    • Glycaemic Dysregulation in Transfusion Dependent Thalassaemia Patient in a Children's Hospital

      hrp0084p2-267
    • MODY-GCK and MODY-HNF1A in Children and Adolescents in Russian Population

      hrp0084p2-268
    • Clinical and Hormonal Profile in Mini-Puberty of Daughters Born after Pregnancies with Diabetes: Preliminary Report

      hrp0084p2-269
    • Growth and Endocrinopathy in Wolfram Syndrome: The Experience of a Nationally Commissioned Specialist Clinic

      hrp0084p2-270
    • Evaluation of a Novel Tool to Adjust Insulin Boluses Based on Continuous Glucose Monitoring Trend Arrows and Insulin Sensitivity (Trend Arrow Adjustment Tool[copyright]) in Children and Youth with Type 1 Diabetes Using Insulin Pump Therapy

      hrp0084p2-271
    • Circulating GLP-1 in Infants Born Small-for-Gestational-Age: Breast-Feeding Vs Formula-Feeding

      hrp0084p2-272
    • Utility of Estimated Glucose Disposal Rate and Fat Mass Percentage for Predicting Metabolic Syndrome in Children and Adolescents with Type 1 Diabetes

      hrp0084p2-273
    • Friedreich's Ataxia Presenting with Diabetes Mellitus in an Adolescent

      hrp0084p2-274
    • Do Pancreatic Functions Predict Cardiac and Liver Iron Loading in Transfusion-Dependent [beta]-Thalassemia Major Patients Using Cardiovascular and Liver T2-Star (T2*)Magnetic Resonance?

      hrp0084p2-275
    • Determinants of Outcome of Children with Type 1 Diabetes in Cameroon

      hrp0084p2-276
    • Psychosocial Screening in Children with Type 1 Diabetes in Ireland

      hrp0084p2-277
    • Neonatal Diabetes - Experience from a Single Centre in Sri Lanka

      hrp0084p2-278
    • Dive: A Serious Game for Diabetes Therapeutic Education in Children

      hrp0084p2-279
    • Glucose and Insulin Response at Standard Oral Glucose Load and Followed Submaximal Treadmill Test in Obese Adolescents

      hrp0084p2-280
    • Insulin Dynamics and Biochemical Markers for Predicting Impaired Glucose Tolerance in Thai Obese Youth

      hrp0084p2-281
    • Total-Body Irradiation is a Major Risk Factor for Young Adult Onset Diabetes Mellitus and Hyperlipidemia in Childhood Cancer Survivors after Hematopoietic Stem Cell Transplantation

      hrp0084p2-282
    • Variables in Diabetic Children and Adolescents Associated with High, Acceptable and Low Range of Glycosylated Haemoglobin in a DGH Setting - An Analysis

      hrp0084p2-283
    • In-Patient Care for Children with Type 1 Diabetes - A Regional Audit in the Yorkshire and Humber Region in the North of England

      hrp0084p2-284
    • Implementation of Effective Transition from Paediatric to Adult Diabetes Care: Epidemiological and Clinical Characteristics - A Pioneering Experience in North Africa

      hrp0084p2-285
    • Assessment of Ventricular Function by Tissue Doppler Echocardiography in Children and Adolescents with Type 1 Diabetes Mellitus

      hrp0084p2-286
    • Incidence of Type 1 Diabetes among Korean Children and Adolescents in 2012-2013: Analysis of Data from the Nationwide Registry of Korea

      hrp0084p2-287
    • Functional Condition of the Kidneys (K/DOQI, 2002) by ACE Gene I/D Polymorphism in Children and Adolescents with Type 1 Diabetes Mellitus

      hrp0084p2-288
    • Longitudinal Study of Irish Children and Adolescents on Continuous Subcutaneous Insulin Infusion

      hrp0084p2-289
    • C-Peptide Variation after the Diagnosis of Type 1 Diabetes in Paediatric Age

      hrp0084p2-290
    • Metformin Utilisation Patterns in Paediatric Population Aged 10-19 Years in the US: 2009-2013

      hrp0084p2-291
    • Incidence of Type 1 Diabetes in Children Under 15-Years-Old in Navarre (Spain) between 1980 and 2014

      hrp0084p2-292
    • Quality of Life in Adolescent with Type 1 Diabetes and Its Relationship with Metabolic Control

      hrp0084p2-293
    • The Prevalence of Different Subtypes of Maturity-Onset Diabetes of the Young in Russian Federation as Defined by Targeted Next-Generation Sequencing

      hrp0084p2-294
    • Sirolimus Therapy in Infants with Congenital Hyperinsulinism after Near Total Pancreatectomy

      hrp0084p2-295
    • Children Born from Mother with Gestational Diabetes Mellitus are at Higher Risk in Metabolic Syndrome

      hrp0084p2-296
    • GH Promotes mRNA Expression and Secretion of Progranulin in 3T3-L1 Cells

      hrp0084p2-297
    • Early Diagnostics of Wolfram Syndrome

      hrp0084p2-298
    • Improving Glycaemic Control at Diagnosis of Type 1 Diabetes: Insulin Dosing Depending on Degree of Ketonaemia at Presentation

      hrp0084p2-299
    • Non-Immune Diabetes Mellitus and Neurodegeneration: Two Distinct Cases of Wolfram Syndrome

      hrp0084p2-300
    • Evaluation of Continuous Glucose Monitoring in Cystic Fibrosis Patients

      hrp0084p2-301
    • The Impact of Diurnal Glycaemic Variability on the Cardiovascular System in Children with Type 1 Diabetes Mellitus

      hrp0084p2-302
  • DSD 25
  • • Multiple Malformations Extending the Phenotypic Spectrum of Antley-Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

      hrp0084p2-303
    • A Novel Homozygous Missense Mutation in RSPO1 Associated with a Familial Case of 46,XX Testicular and Ovotesticular DSD

      hrp0084p2-304
    • 'www.steroidogenicfactor-1.info': An Online Database of Variants in Steroidogenic Factor 1 (SF-1, NR5A1) and Resource for Families and Professional Healthcare Providers

      hrp0084p2-305
    • Two Testes and 2X Chromosomes: Why?

      hrp0084p2-306
    • Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD

      hrp0084p2-307
    • MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis

      hrp0084p2-308
    • Alterations in Germ Cell Memory and Mini-Puberty Induce Infertility in Cryptorchidism

      hrp0084p2-309
    • Management of Gonads in Adults with Androgen Insensitivity: An International Survey

      hrp0084p2-310
    • The Localisation of Cells with XX and XY in Gonadal Tissues Associated with Ovotesticular Disorder of Sexual Development with a 46,XX/46,XY Karyotype

      hrp0084p2-311
    • Birth Weight in Different Aetiologies of Disorder of Sex Development

      hrp0084p2-312
    • A Novel Human CYP19A1 Deletion-Insertion Mutation Reveals that the C-terminus of the Aromatase Protein is Crucial for its Activity

      hrp0084p2-313
    • Pubertal Virilization in Two Unrelated XY Teenagers with Female Phenotype due to NR5A1/SF-1 Gene Mutation

      hrp0084p2-314
    • Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development

      hrp0084p2-315
    • Partial Androgen Insensitivity: Syndrome or Symptoms?

      hrp0084p2-316
    • Next-Generation Sequencing as a Rapid Molecular Diagnosis in Patients with 46,XY Disorder of Sex Development

      hrp0084p2-317
    • When, if Ever, Should the Mullerian Remnants be Removed from Subjects with Mixed Gonadal Dysgenesis Raised as Males?

      hrp0084p2-318
    • Gonadotropin Surge During the Early Postnatal Activation Period in 46,XX Testicular/Ovotesticular Disorder of Sex Development Patients

      hrp0084p2-319
    • The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey

      hrp0084p2-320
    • Familial Mutation of NR5A1/SF-1 Gene Associated with DSD and Spleen Agenesis: A New Syndrome?

      hrp0084p2-321
    • Clinical Spectrum of 45,X/46,XY Mosaicism and Variants in Children

      hrp0084p2-322
    • Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?

      hrp0084p2-323
    • DSD 46,XY and Serum Steroid Profile Ambiguity due to Combined 17-Beta Hydroxysteroid Dehydrogenase/21-Hydroxylase Deficiencies

      hrp0084p2-324
    • Frequency of Cryptorchidism and Age at Operation in Helsinki Area between 2004 and 2014

      hrp0084p2-325
    • Prevalence of Partial Androgen Insensitivity Syndrome in 3 Cohorts of 46,XY Children Presenting with Isolated Hypospadias, Isolated Micropenis or Isolated Persistent Pubertal Gynecomastia

      hrp0084p2-326
    • A Novel Mutation of Anti-Mullerian Hormone Receptor Gene in a Male with Persistent Mullerian Duct Syndrome

      hrp0084p2-327
  • Fat 64
  • • miR-122 and Non-Alcoholic Fatty Liver Disease in Prepubertal Obese Children

      hrp0084p2-328
    • Meteorin-Like (METRNL) Expression in Human Adipose Tissue is Associated with Adipocyte Hypertrophy and Inflammation and is Down-Regulated During Human Adipogenesis

      hrp0084p2-329
    • Abdominal fat Distribution Measured by Magnetic Resonance Imaging in 197 Children Aged 10-15 Years - Correlation to Anthropometry and Dual X-Ray Absorptiometry

      hrp0084p2-330
    • Autonomic Nervous System Function Assessed by Heart Rate Variability in Children and Adolescents with Long Term Follow up of Craniopharyngioma

      hrp0084p2-331
    • SIRT1 and SIRT2 Gene Expression in Peripheral Blood Mononuclear Cells of Obese Children and Adolescents and their Relationship with Metabolic Parameters and Insulin Resistance

      hrp0084p2-332
    • Leptin Replacement Improves Central Ventilation in a Patient with Congenital Leptin Deficiency: First Report in Childhood

      hrp0084p2-333
    • Childhood Obesity Negatively Influences Adult Leydig Cell Function

      hrp0084p2-334
    • Network Coordinated Primary Care Intervention in Obese Children and Adolescents: Almost a Decade of Experience

      hrp0084p2-335
    • Diagnosing the Metabolic Syndrome in Survivors of Childhood Haematopoietic Stem Cell Transplantation and Total Body Irradiation

      hrp0084p2-336
    • Laparoscopic Sleeve Gastrectomy in Adolescents: Metabolic Consequences

      hrp0084p2-337
    • A Novel Melanocortin-4-Receptor Gene Mutation Associated with Early Onset Severe Obesity

      hrp0084p2-338
    • Hypothalamic Obesity, Hyperphagia, and Hyperinsulinaemia: Time for a Paradigm Shift in Assumptions?

      hrp0084p2-339
    • Prevalence of Scoliosis in a Large Cohort of Paediatric and Adolescent Prader-Willi Syndrome: A Scottish-Italian study

      hrp0084p2-340
    • Palmitic Acid Could Modify Cognitive and Behavioural Functions Through Sex Specific Activation of Hippocampal Astrocytes

      hrp0084p2-341
    • Changes in Insulin Sensitivity in Adolescents Who Underwent Bariatric Surgery: Effects of Laparoscopic Sleeve Gastrectomy and Laparoscopic Gastric Banding

      hrp0084p2-342
    • Chronodisruption in Obese Children

      hrp0084p2-343
    • Configuring a Better Estimation of Obese Children's Kidney Size

      hrp0084p2-344
    • Early Onset of Adiposity Rebound is Associated with Higher Leptin Concentrations in 12-Year-Old Children

      hrp0084p2-345
    • Metformin Treatment for Obese Children and Adolescents with Insulin Resistance

      hrp0084p2-346
    • A Double-Blind, Placebo-Controlled Comparison of Cinnamon Extract to Metformin Effects upon Insulin Resistance, Apolipoprotein B:Apolipoprotein A1 Ratio, and BMI of Obese Adolescent Girls with Polycystic Ovary Syndrome

      hrp0084p2-347
    • Pantoprazole Treatment of Exogenous Obesity and Hyperinsulinism in Childhood

      hrp0084p2-348
    • Subepicardial Adipose Tissue and Carotid Intima-Media Thickness in Obese Children and Their Relationship Between Metabolic and Clinical Parameters

      hrp0084p2-349
    • The Switch in Eating Behaviour in Infants with Prader-Willi Syndrome is Associated with an Increase in the Acylated:Unacylated Ghrelin Ratio: Results of a Longitudinal Study

      hrp0084p2-350
    • Domino Liver Transplantation for the Pre-Emptive Therapy of Compound Heterozygous Familial Hypercholesterolemia: A Case of 2-Year-Old Girl

      hrp0084p2-351
    • Metformin Prescriptions as a Proxy for Paediatric Type 2 Diabetes Burden

      hrp0084p2-352
    • A New Mutation of PCSK1 Revealed by Neonatal Malabsorptive Diarrhoea, Panhypopituitarism, and Major Obesity

      hrp0084p2-353
    • Overweight and Obesity in Childhood Cancer Survivors

      hrp0084p2-354
    • Berardinelli Seip Congenital Lipodystrophy: A Light of Hope

      hrp0084p2-355
    • Physical and Metabolic Evolution of Obese Children and Adolescents after the Attainment of Intense Weight Reduction

      hrp0084p2-356
    • TG:HDL Ratio as Best Predictor for IGT Screening in Overweight Children

      hrp0084p2-357
    • Elevated Serum Irisin Level is not Related to Metabolic and Anthropometric Parameters in Obese Children

      hrp0084p2-358
    • FTO rs9939609 Polymorphism is Associated with the Presence of Obstructive Sleep Apnoea in Obese Youth

      hrp0084p2-359
    • Increasing Waist/Height Ratio and BMI Z-Score are Associated with Increased Comorbidities in Obese Youth, although Neither Accurately Identifies those with Abnormal Glucose Metabolism

      hrp0084p2-360
    • Early Determinant Factors of Childhood Obesity

      hrp0084p2-361
    • Nonalcoholic Fatty Liver Disease and Intestinal Inflammation in Obese Children

      hrp0084p2-362
    • Sleep and Weight Status at 4 Years in the Inma Asturias Cohort

      hrp0084p2-363
    • Evaluation of Acylated Ghrelin and Obestatin Levels and Ghrelin:Obestatin Ratio in Obesity

      hrp0084p2-364
    • A Novel MC4R Mutation Associated with Infancy-Onset Obesity

      hrp0084p2-365
    • Homozygous Mutation in FBN1 Gene In-Patient with Prader-Willi Syndrome: Variant Marfan Syndrome?

      hrp0084p2-366
    • Residual Excess Weight Difference Between BMI 35-40 and Over 40 After Laparoscopic Sleeve Gastrectomy in Severely Obese Adolescents: Midterm Outcomes

      hrp0084p2-367
    • Effect of Visfatin on Gene Expression of Insulin Signaling Molecules in SW872 Adipocytes

      hrp0084p2-368
    • Childhood Obesity and Normocalcaemia with a GNAS Mutation also Present in Mother

      hrp0084p2-369
    • Information Technology Supported Treatment of Obese Children and Their Families: A Pilot Study

      hrp0084p2-370
    • Prevalence and Phenotypic Characterization of MC4R Mutations in a Large Paediatric Cohort

      hrp0084p2-371
    • The Effect of ABCA1 Gene C69T Single Nucleotide Polymorphism on Dyslipidemia and Insulin Resistance in Obese Children

      hrp0084p2-372
    • Obese 5 Years Old Remain Obese at Age 12

      hrp0084p2-373
    • Lifestyle Habits and Arterial Hypertension in Children and Adolescents

      hrp0084p2-374
    • The Relation of Serum Nesfatin-1 Level with Anthropometric and Metabolic Parameters in Korean Children and Young Adolescents

      hrp0084p2-375
    • Metabolic Syndrome Components of Normal Weight Central Obese Adolescents in Korea Stratified by Waist-To-Height Ratio: Results from K-NHANES 2008-2010

      hrp0084p2-376
    • The Effect of Exenatide on Weight and Appetite in Overweight Adolescents and Young Adults with Prader-Willi Syndrome

      hrp0084p2-377
    • Early-Onset Obesity and Adrenal Insufficiency Associated with a Homozygous POMC Mutation

      hrp0084p2-378
    • Clinical and Laboratory Differences between Metabolically Healthy and Unhealthy Obese Children

      hrp0084p2-379
    • Insulin Resistance and Abnormal Glucose Tolerance After Paediatric Hematopoietic Stem Cell Transplantation in Blood Cancer Survivors

      hrp0084p2-380
    • Metformin in Combination with Lifestyle Changes Effectively Reduces BMI and Waist Circumference in Overweight/Obese Children and Adolescents

      hrp0084p2-381
    • Insulin-Like Factor 5 -A Novel Orexigenic Hormone in Humans is Dysregulated in Obesity

      hrp0084p2-382
    • Tryptophan Supplementation as Conjunctive Therapy to Life Style Changes in Obese Adolescents

      hrp0084p2-383
    • Obesity in ROHHADNET Syndrome: Does Cortisol Play a Role?

      hrp0084p2-384
    • TNF[alpha] Downregulates CIDEC Via MEK/ERK-dependent PPAR[gamma] Phosphorylation and Nuclear Exportation in Human Adipocytes

      hrp0084p2-385
    • The Sequence of Prenatal Growth Restraint and Postnatal Catch-Up Growth Leads to a Thicker Intima Media and More Pre-Peritoneal and Hepatic Fat by Age 3-6 Years

      hrp0084p2-386
    • Biovascular Markers in Children with Kabuki Syndrome

      hrp0084p2-387
    • Phthalate Exposure and Metabolic Parameters in Korean Girls

      hrp0084p2-388
    • Childhood Craniopharyngioma with Hypothalamic Obesity - No Long-term Weight Reduction due to Rehabilitation Programs

      hrp0084p2-389
    • Programming of Rat Behaviours and the Stress Response by Duration of the Infancy Stage

      hrp0084p2-390
    • POMC DNA Hypermethylation Variant is Highly Associated with Obesity in Adults

      hrp0084p2-391
  • GH & IGF 40
  • • Unaltered Ratio of Circulating Levels of GH Isoforms after Administration of Different GH Provocative Tests in a Population of Short Stature Children

      hrp0084p2-392
    • Study of IGF1 Receptor Gene in Small for Gestational Age Patients with Short Stature Treated with RHGH

      hrp0084p2-393
    • Gene Expression Profiles in GH Deficient Children Relate Peak GH Levels to Circadian Clock, Chromatin Remodelling, and WNT Signalling Pathways

      hrp0084p2-394
    • Growth and GH in Kabuki Syndrome

      hrp0084p2-395
    • Abstract unavailable

      hrp0084p2-396
    • Silver Russell syndrome: A Cause of Partial IGF1 Resistance?

      hrp0084p2-397
    • The In vitro Functional Analysis of Gene Promoter Region Single Nucleotide Polymorphisms Associated with GH Response in Children with GH Deficiency

      hrp0084p2-398
    • Is Retesting in GH Deficient Children Really Useful?

      hrp0084p2-399
    • Regulation of IGF1R mRNA Expression by GnRH Agonist may be Involved in the Decrease of Height Velocity During Central Precocious Puberty Therapy

      hrp0084p2-400
    • GRB10 Knockdown in Zebrafish is Associated with Decreased Weight-to-length Ratio without Alterations in AKT and ERK Activity: A Model to Study Human Growth Regulation

      hrp0084p2-401
    • The Involvement of the Epidermal Growth Factor Receptor in the Successful GH Signalling and the Role of p21 in the Negative Regulation of the GH/GHR and EGF/EGFR Pathways, in GH Transduction Defect

      hrp0084p2-402
    • Homozygous Carriers of a Novel IGFALS Mutation are 1.5 SD Shorter than Heterozygous Relatives and Tend to have Lower Bone Mineral Density

      hrp0084p2-403
    • The Role of [beta]-TrCP, an E3 Ubiquitin Ligase, in the Signalling of the GH and Epidermal Growth Factor Pathways in Growth Hormone Transduction Defect

      hrp0084p2-404
    • SGA Short Stature Bearing with a Novel Nonsense Mutation (p.W1249X) in the IGF1R Gene

      hrp0084p2-405
    • Metabolic Health in Short Children Born Small for Gestational Age Treated with GH and GnRHa: Results of a Randomised, Dose-response Trial

      hrp0084p2-406
    • A Phase 2, 6-Month, Randomised, Active-Controlled, Safety and Efficacy Study of TransCon hGH Compared to Daily Human GH in Children with GH Deficiency

      hrp0084p2-407
    • Does Skeletal Disproportion in Children with Idiopathic Short Stature Influence Response to GH Therapy?

      hrp0084p2-408
    • The Influence of GH Therapy on Chemerin Concentration, Body Mass and Selected Parameters of Carbohydrate Metabolism in Prepubertal Non-Obese Children with GH Deficiency

      hrp0084p2-409
    • Response to GH Treatment in the Very Young with GH Deficiency

      hrp0084p2-410
    • Estimation of Adipsin, Omentin and Vaspin Concentration in Prepubertal Children with GH Deficiency before and after 6 Months of GH Treatment

      hrp0084p2-411
    • Final Height and Safety Outcomes in GH-Treated Children Born Small for Gestational Age: Experience from the Prospective GeNeSIS Observational Study

      hrp0084p2-412
    • Results up to January 2015 from PATRO Children, a Multi-Centre, Non-Interventional Study of the Long-Term Safety and Efficacy of Omnitrope[reg] in Children Requiring GH Treatment

      hrp0084p2-413
    • GH Treatment Prevents Hypoxia-Induced Decrease of GH and IGF1 Plasma Concentrations in Neonatal Mice

      hrp0084p2-414
    • The Pharmacokinetics and Pharmacodynamics of TV-1106, a Once Weekly GH Supplement: Results from a Phase 2 Study of TV-1106 in Adults with GH Deficiency

      hrp0084p2-415
    • Effects of GH Treatment on the Heart in Children with GH Deficiency

      hrp0084p2-416
    • GH Therapy in Skeletal Dysplasias: Final Height Data

      hrp0084p2-417
    • Random Forest Classification Predicts Response to Recombinant GH in GH Deficient Children Using Baseline Clinical Parameters and Genetic Markers

      hrp0084p2-418
    • Safety Evaluation of Long-Term Recombinant GH Treatment in Childhood: Interim Analysis of the NordiNet[reg] International Outcome Study (IOS)

      hrp0084p2-419
    • Hypoglycaemic Adverse Events Reported in Children Enrolled in the European Increlex[reg] Growth Forum Database in Europe (5-Year Interim Data)

      hrp0084p2-420
    • Application of Neural Networks for Final Height Prediction Based on Pre-Treatment Data in Children with GH Deficiency Treated with GH

      hrp0084p2-421
    • Physical Performance and Right Ventricular Function in Children with GH Deficiency before and after 12 Months-GH Replacement Therapy

      hrp0084p2-422
    • The Accuracy of Bioelectrical Impedance Analysis to Detect the Body Composition Changes in Adolescents with Severe GHD During Transition

      hrp0084p2-423
    • Timing of GH Peak in Provocation Tests is Important in Predicting the Effectiveness of Treatment with rhGH in Prepubertal Children with GHD

      hrp0084p2-424
    • Comparison of Baseline Parameters and Response to GH Treatment in 125 Children with Short Stature with Eight Different Diagnosis

      hrp0084p2-425
    • The Acid-Labile Subunit Dose Matters? Response to Human GH Treatment in Patients with Acid-Labile Subunit Deficiency

      hrp0084p2-426
    • rhGH Replacement Therapy Ameliorates Body Composition Substantially but has No Effect in the Quality of Life in Adolescents with GH deficiency - A Cross-Sectional Study

      hrp0084p2-427
    • Evaluation of the Effect of GH Treatment on Insulin Resistance and Cardiovascular Tissue

      hrp0084p2-428
    • Effectiveness of Recombinant IGF1 Treatment in a Patient with Isolated GH IA Deficit Producer of Anti-GH Antibodies

      hrp0084p2-429
    • Analysis of CD133+CD45+ Hematopoietic Progenitor/Stem Cells and CD133+/CD45- Very Small Embryonic-Like Stem Cells in Children with GH Deficiency Subjected to GH Therapy

      hrp0084p2-430
    • Effectiveness of rhIGF1 Treatment in a Girl with Leprechaunism

      hrp0084p2-431
  • Gonads 14
  • • A Perioperative Change of Anti-Mullerian Hormone and E2 in a Patient with Sex Cord Tumour with Annular Tubules

      hrp0084p2-432
    • Oral Contraception Vs Low-Dose Pioglitazone-Spironolactone-Metformin for Adolescent Girls with Hyperinsulinaemic Androgen Excess: On-Treatment Divergences

      hrp0084p2-433
    • Confirmation of Exogenous Serum Estrogenic Activity in a Girl with Premature Thelarche

      hrp0084p2-434
    • Clinical Criteria Remain Paramount for the Diagnosis of Polycystic Ovary Syndrome in the Adolescent Age Group

      hrp0084p2-435
    • Gonadal and Sexual Dysfunction in Childhood Cancer Survivors

      hrp0084p2-436
    • Implementation of a High Sensitive LC-MS/MS Method for Measurement of Oestradiol, Oestrone and Oestriol

      hrp0084p2-437
    • Gonadal Function in the Prader-Willi Syndrome from Infancy to Adulthood

      hrp0084p2-438
    • Markers of Fertility and Quality of Life in Adolescents with Chronic Endocrine Diseases at the Time of Transition from Paediatric to Adult Care

      hrp0084p2-439
    • A Novel Androgen Receptor Gene Mutation in Two Patients with a 46, XY Disorder of Sex Development

      hrp0084p2-440
    • The Effect and Pharmacokinetics of Percutaneous Administration of Dihydrotestosterone Gel in Chinese Children with Microphallus

      hrp0084p2-441
    • Differential Regulation of Serum Sex Hormone Binding Globuling in Polycystic Ovarian Syndrome Girls in Relation to Weight

      hrp0084p2-442
    • Usefulness of 3D Ultrasonography for Assessment of the Morphology of the Ovary in Adolescents with Hyperandrogenism

      hrp0084p2-443
    • An Unusual Cause of Primary Amenorrhoea Suggested by the Urine Steroid Profile

      hrp0084p2-444
    • The Late Effects after the Haematopoietic Stem Cells Transplantation for Patients with Non-Neoplastic Disease

      hrp0084p2-445
  • Growth 38
  • • BMI Negatively Correlates with GH Response to GH Provocation Testing

      hrp0084p2-446
    • SHOX Mutation Spectrum in an Unbiased Cohort of 585 Patients Referred for Leri-Weill Dyschondrosteosis or Idiopathic Short Stature

      hrp0084p2-447
    • Determination of the Pathogenicity of SHOX P2 Promoter Variants, Identified in Patients with Leri-Weill Dyschondrosteosis or Idiopathic Short Stature

      hrp0084p2-448
    • Risk for Non-Alcoholic Fatty Liver Disease in Young Adults Born Preterm

      hrp0084p2-449
    • Pharmacokinetics and Efficacy of a Long-Acting Human GH with Fc Fusion Protein

      hrp0084p2-450
    • SHOX Deficiency: Clinical, Radiological Signs and Value of Screening Scores

      hrp0084p2-451
    • Skeletal Dysplasia with Short Stature and a Larsen-Like Phenotype due to a Homozygous Mutation in B3GAT3

      hrp0084p2-452
    • Cross-Sectional and Longitudinal Follow-Up of Changes in Glucose Metabolism in Prepubertal GH-Treated SGA-Patients: Results of an Unicentric Study

      hrp0084p2-453
    • Growth Pattern in Children Affected of Lowe Syndrome - Descriptive Multicentre International Study: Preliminary Data

      hrp0084p2-454
    • Effect of Aromatase Inhibitor Treatment During Adolescence on the Final Adult Height in Males with Idiopathic Short Stature

      hrp0084p2-455
    • The Effect of Inhaled Glucocorticoid Therapy on Growth Patterns in Pre-Pubertal Children with Asthma Compared to Controls

      hrp0084p2-456
    • Low Plasma Ghrelin Levels in Children with Severe Protein Energy Malnutrition

      hrp0084p2-457
    • Sleep Apneas in Silver Russell Syndrome: A Constant Finding

      hrp0084p2-458
    • Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Leri-Weill Dyschondrosteosis

      hrp0084p2-459
    • Individuals with Cow's Milk Allergy are at Risk for not Reaching their Growth Potential

      hrp0084p2-460
    • French Growth Reference Charts should be Updated

      hrp0084p2-461
    • Advanced Bone Age and Accelerated Dental Development Associated with Elevated Retinoic Acid Levels and Haploinsufficiency of CYP26A1 and CYP26C1

      hrp0084p2-462
    • Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect?

      hrp0084p2-463
    • Infant with Phenotype Suggestive of Silver-Russell Syndrome and Study of Normal Methylation: Consider 12q14.3q15 Microdeletion Syndrome

      hrp0084p2-464
    • Making Adult Height Prediction Complete: Forecasting the Age of the Growth Spurt and the Height and Velocity Trajectories Until Adulthood

      hrp0084p2-465
    • Whole Exome Sequencing Identifies De Novo HRAS Mutation Underlying Primary IGF1 Deficiency (PIGFD)

      hrp0084p2-466
    • Clinical and Biochemical Characteristics of a Female Patient with a Novel Homozygous STAT5B Mutation but Lack of Pulmonary Disease

      hrp0084p2-467
    • Novel Heterozygous ACAN Mutations in Short Stature: Expanding the Clinical Spectrum

      hrp0084p2-468
    • Major Improvement in Parental Perception of their Children's Height-Specific Quality of Life after 1 Year of GH Treatment: Our Experience with the QoLiSSY Questionnaire

      hrp0084p2-469
    • Hypomethylation within the Imprinted Dlk1 - Dio3 Domain: a Potential Regulatory Mechanism of Pre and Postnatal Growth

      hrp0084p2-470
    • Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study

      hrp0084p2-471
    • Characterisation of Partial SHOX Deletions/Duplications Reveals Intron 3 to be a Hotspot Region

      hrp0084p2-472
    • The Pubertal Gain in Height is Inversely Related to BMI in Childhood

      hrp0084p2-473
    • Growth Curves for Height, Weight, BMI and Head Circumference in Children with Achondroplasia

      hrp0084p2-474
    • Growth Hormone Deficiency and Pituitary Dysgenesis in a Girl with Microdeletion 2q31.1

      hrp0084p2-475
    • One Year Screening Program for Stature Deviations - Strategy and Outcome

      hrp0084p2-476
    • BASIC: Bone Age Study in Children

      hrp0084p2-477
    • Comparison of the Turkish Growth Standards with the Who Standards

      hrp0084p2-478
    • Moya Moya Syndrome in a Patient with Growth Hormone Deficiency and Hypergonadotropic Hypogonadism: to Treat or not to Treat with Growth Hormone Therapy?

      hrp0084p2-479
    • In Vitro Functional Characterization Of IGFALS Gene Variants Found In ALS Deficient or Idiopathic Short Stature (ISS) Children

      hrp0084p2-480
    • Klinefelter Syndrome with Short Stature and Microcephaly: An Unusual Combination

      hrp0084p2-481
    • Childhood Growth of Boys with Congenital Hypogonadotropic Hypogonadism

      hrp0084p2-482
    • Hypermethylation at the Imprinted C19mc Microrna Cluster: A New Link between Maternal Metabolism and Infant's Growth

      hrp0084p2-483
  • Hypo 12
  • • Challenged Diagnosis on Hypoglycaemia: Hirata Disease X Factitious Hypoglycaemia

      hrp0084p2-484
    • Is Bedside Monitoring of Blood Beta-Hydroxybutyrate Levels Reliable in the Management of Hypoglycaemia in Children?

      hrp0084p2-485
    • Transient Hyperinsulinaemic Hypoglycaemia in Association with a Novel ABCC8 Mutation: Expanding the Clinical Phenotypes

      hrp0084p2-486
    • Congenital Hyperinsulinism in Ukraine

      hrp0084p2-487
    • Unexplained Altered States of Consciousness in a Girl

      hrp0084p2-488
    • The Effectiveness of Sirolimus in a Newborn with Hyperinsulinaemic Hypoglycaemia

      hrp0084p2-489
    • Congenital Hyperinsulinism Caused by a Combination of Novel Heterozygous ABCC8 and KCNJ11 Mutations

      hrp0084p2-490
    • Functional Analysis of Novel ABCC8 Mutations Found in Czech Patients with Congenital Hyperinsulinism

      hrp0084p2-491
    • Syndromic Hypoketotic, Hypoinsulinemic Hypoglycaemia due to a Mosaic Activating Phosphatidylinositol 3-Kinase Mutation

      hrp0084p2-492
    • Long Acting Somatostatin Analogue (Lanreotide) Therapy in Congenital Hyperinsulinism - Pharmacokinetics and Long-Term Follow-Up Study

      hrp0084p2-493
    • Congenital Hyperinsulinism in Association with Poland Syndrome and Chromosome 10p11-p13 Duplication

      hrp0084p2-494
    • Rapid Biochemical Evaluation Aids Timely Management of Congenital Hyperinsulinism

      hrp0084p2-495
  • Perinatal 11
  • • Serial 3-Dimensional Ultrasonographic Evaluation of Foetal Adrenal Volumes in the 2nd and 3rd Trimester of Pregnancy Characterises Human Adrenal Development in utero

      hrp0084p2-496
    • Genetic Variation in the FSH Signalling Pathway Affects Female Reproductive Hormones During Infancy

      hrp0084p2-497
    • Longitudinal Comparison of Inhibin B and AMH Levels and Testicular Volumes between Preterm and Full-Term Infant Boys

      hrp0084p2-498
    • Postnatal Catch-Down Growth is not Associated with Disturbances in Metabolic Parameters in Large-for-Gestational-Age Infants at the Age of 8 Years

      hrp0084p2-499
    • Birth Incidence of Prader-Willi Syndrome in France

      hrp0084p2-500
    • Variation of Environmental Chemicals Measured in Serum During Pregnancy

      hrp0084p2-501
    • Auxological Parameters, Endocrine Growth Factors and Insulin Resistance from Birth to 12 Months of Life in Children Born Small for Gestational Age

      hrp0084p2-502
    • Serum Fetuin-a Level for Diagnosis Hepatic Steatosis in Children with Type 1 Diabetes Mellitus

      hrp0084p2-503
    • Association of Dll4 Levels and VEGFR-1, VEGFR-2 in Mice Model of Oxygen-Induced Retinopathy

      hrp0084p2-504
    • Evaluation of Thyroid Function in Preterm Newborns of 24-30 Weeks of Gestation

      hrp0084p2-505
    • Mini-Puberty in Boys with Cryptorchidism

      hrp0084p2-506
  • Pituitary 14
  • • Fanconi Anemia Endocrine Abnormalities - Case Report

      hrp0084p2-507
    • The IGSF1 Deficiency Syndrome: An Unusual Case

      hrp0084p2-508
    • Survival, Hypothalamic Obesity, and Neuropsychological/Psychosocial Status after Childhood-Onset Craniopharyngioma: Newly Reported Long-Term Outcomes

      hrp0084p2-509
    • Chronic Inappropriate Antidiuresis in Childhood: Experience with Tolvaptan

      hrp0084p2-510
    • Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome

      hrp0084p2-511
    • Pituitary Function after Mild to Severe Traumatic Brain Injury in Children 2-18-Years-Old: A Prospective Study

      hrp0084p2-512
    • A Novel Mutation within the AVP Gene in an 18-Year-Old Male Patient with Kallmann Syndrome and Combined Pituitary Hormone Deficiency

      hrp0084p2-513
    • Hydrocephalus and Hypothalamic Involvement in Paediatric Patients with Craniopharyngioma or Cysts of Rathke's Pouch: Impact on Long-term Prognosis

      hrp0084p2-514
    • Contrasting Central Diabetes Insipidus due to preproAVP Mutations: Earlier Onset of Symptoms in Recessive than in Dominant Forms

      hrp0084p2-515
    • Endocrine Disorders in Children with Optic Chiasm Glioma

      hrp0084p2-516
    • Be Aware of Congenital Panhypopituitarism in Children with a Family History of Polydactyly

      hrp0084p2-517
    • A Novel Single Nucleotide Variation Contributing to the Expression of Isolated Hypogonadotropic Hypogonadism

      hrp0084p2-518
    • Eating Behaviour, Weight Problems and Eating Disorders in 101 Long-Term Survivors of Childhood-Onset Craniopharyngioma

      hrp0084p2-519
    • Two Novel LHX3 Mutations in Patients with Combined Pituitary Hormone Deficiency and Sensorineural Hearing Loss

      hrp0084p2-520
  • Puberty 30
  • • A Novel Entity Characterised by GH Deficiency and Central Precocious Puberty in Two Siblings and their Father, in the Absence of Central Nervous System Defect

      hrp0084p2-521
    • Effect of Specimen Repeated Freeze-Thaw Cycles on Urinary Gonadotropin Determined by Immunochemiluminometric Assays

      hrp0084p2-522
    • Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

      hrp0084p2-523
    • Pulsatile GnRH is Superior to hCG in Therapeutic Efficacy in Adolescent Boys with Hypogonadotropic Hypogonadodism

      hrp0084p2-524
    • The Lack of MKRN3 Gene Mutations in Patients with Idiopathic Sporadic GnRH-Dependent Precocious Puberty

      hrp0084p2-525
    • Serum AMH Levels are Lower in Healthy Boys Who Develop Pubertal Gynaecomastia

      hrp0084p2-526
    • Evaluation of Final Height in Girls Taking GnRH Analogue: Should the Age Limit for Precocious Puberty be Changed?

      hrp0084p2-527
    • Correlation of Clinical Phenotype and Genotype of Prader-Willi Syndrome and the Deletion of Paternal MKRN3 Allele in PWS Patients with Central Precocious Puberty

      hrp0084p2-528
    • Doppler Evaluation of the Uterine Artery for the Diagnosis and Follow-Up of Patients with Precocious Puberty

      hrp0084p2-529
    • Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

      hrp0084p2-530
    • Regional Brain Volume and Luteinising Hormone in Girls with Idiopathic Central Precocious Puberty

      hrp0084p2-531
    • Determination of Final Height in Girls with Precocious Puberty. Which is the Most Accurate Method?

      hrp0084p2-532
    • The Relationship between Steriod Receptors and Aromatase in the Mouse Brain

      hrp0084p2-533
    • Evaluation of Body Proportions in Children with Precocious or Delayed Puberty

      hrp0084p2-534
    • GH Deficiency with Advanced Bone Age: GHRH Receptor Mutation Detected by Exome Sequencing Associated to Non-Classical Congenital Adrenal Hyperplasia (CAH)

      hrp0084p2-535
    • Ultra-Deep Next-Generation Sequencing: A reliable Method for the Molecular Diagnosis of McCune Albright Syndrome

      hrp0084p2-536
    • Increased Ambulatory Blood Pressure in Adolescents with Gender Dysphoria Treated with Gonadotropin- Releasing Hormone Analogues

      hrp0084p2-537
    • Plasma Humanin Levels During Normal Childhood and Puberty. Study of Possible Correlations with Sex, Age, and Insulin Levels

      hrp0084p2-538
    • GnRH Infusion in Females with Hypogonadotropic Hypogonadism

      hrp0084p2-539
    • A Case of Familial Central Precocious Puberty Caused by a Novel Mutation in the Makorin RING Finger Protein 3 Gene

      hrp0084p2-540
    • Distribution of Mutations in Genes Known to be Associated with Familial Idiopathic Hypogonadotropic Hypogonadism in a Large Cohort

      hrp0084p2-541
    • Gonadotropin-Releasing Hormone Agonist Analog (Tripotorelin) Stimulation Test in Evaluation of Pituitary -Testicular Function in Boys

      hrp0084p2-542
    • The Endocrine Response to a Gonadotropin Releasing Hormone (GnRH) Test: Establishing a Reference Interval in Healthy Girls below 6 Years of Age

      hrp0084p2-543
    • Increasing BMI is Associated with Lower Luteinising Hormone Levels in Girls with Central Precocious Puberty at the Early Pubertal Stage

      hrp0084p2-544
    • Change of Growth Pattern and Bone Mineral Density in Ovariectomised Female Rats According to Oestrogen Dosage

      hrp0084p2-545
    • Gynecomastia with Precocious Onset in Peutz-Jeghers Syndrome: Managing the Aromatase Overexpression

      hrp0084p2-546
    • The Impact of Growth Hormone (GH) Therapy Combined with Estrogens on Blood Pressure (BP), Cardiac Left Ventricular (LV) Dimensions and Lipid Metabolism in Pubertal Girls with Turner's Syndrome (TS)

      hrp0084p2-547
    • Sensitivity of Measured Parental Height and Target Range in the Diagnosis of Turner Syndrome

      hrp0084p2-548
    • Balance Control in Children and Adolescent Girls with Turner Syndrome

      hrp0084p2-549
    • Short Stature with Neurodevelopmental Delay in Familial Variant Turner Syndrome

      hrp0084p2-550
  • Thyroid 30
  • • Diagnostic Significance of Serum Concentrations of Osteoprotegerin and Proinflammatory Cytokine IL-1[beta] in Children with Autoimmune Thyroid Disease

      hrp0084p2-551
    • Even in the Era of Congenital Hypothyroidism Screening Mild and Subclinical Sensorineural Hearing Loss Remains a Relatively Common Complication of Severe Congenital Hypothyroidism

      hrp0084p2-552
    • Efficacy of Supplemental Liothyronine for Patients with Congenital Hypothyroidism and Pituitary Resistance to Thyroid Hormone

      hrp0084p2-553
    • Hypoceruloplasminemia as a Marker of Severe Hypothyroidism

      hrp0084p2-554
    • Pituitary Resistance to Exogenous Levothyroxine in Humans

      hrp0084p2-555
    • Novel PAX8 Mutations in Zhuang Chinese with Congenital Hypothyroidism

      hrp0084p2-556
    • Potentially Excessive Levothyroxine Doses in Cases of Congenital Hypothyroidism with Eutopic Thyroid Gland

      hrp0084p2-557
    • Objective vs Subjective Measurement of Thyroid Volume by Ultrasound in Infants Referred with TSH Elevation on Newborn Screening

      hrp0084p2-558
    • Central or Primary Hypothyroidism? How to Differentiate in Patients with Low T4 but Mildly Elevated TSH Levels

      hrp0084p2-559
    • A Rare Adverse Effect of Methimazole: Serum Sickness

      hrp0084p2-560
    • Analysis of Chosen Polymorphisms rs5742909 C/T - CTLA4, rs7522061 C/T - FCRL3, rs7138803 A/G - FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

      hrp0084p2-561
    • Thyroid Dysfunction is Associated with Biochemical Markers of Non Alcoholic Fatty Liver Disease in Paediatric Population

      hrp0084p2-562
    • Nonautoimmune Neonatal Hyperthyroidism due to A633G Mutation in the Thyrotropin Receptor Gene

      hrp0084p2-563
    • Are Children with Congenital Primary Hypothyroidism Overtreated?

      hrp0084p2-564
    • Metamorphic Thyroid Autoimmunity in Down Syndrome: From Hashimoto's Thyroiditis to Graves' Disease and Beyond

      hrp0084p2-565
    • Analysis of B Regulatory Cells with Phenotype CD19+CD24hiCD27+IL-10+ and CD19+IL-10+ in the Peripheral Blood of Children with Graves' Disease and Hashimoto's Thyroiditis

      hrp0084p2-566
    • Case Report: Resistance of Thyroid Hormone due to a Novel Thyroid Hormone Receptor [beta]-Gene Mutation

      hrp0084p2-567
    • Levothyroxine Replacement in Primary Congenital Hypothyroidism: The Higher the Initial Dose the Higher the Rate of Overtreatment

      hrp0084p2-568
    • Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism

      hrp0084p2-569
    • Goitrous Hypothyroidism of Pubertal Onset Caused by a Novel Mutation in DEHAL1 Gene

      hrp0084p2-570
    • Mutation Screening of the TSH Receptor Gene in a Cohort of 192 China Patients with Congenital Hypothyroidism

      hrp0084p2-571
    • Mutational Analysis of TSH Receptor and the Clinical Characteristics of Congenital Hypothyroidism

      hrp0084p2-572
    • Characteristics of Delayed TSH Elevation in Neonatal Intensive Care Unit Newborns

      hrp0084p2-573
    • Years Follow-Up of Children with Abnormal Newborn Screening Results for Congenital Hypothyroidism: Who Needs Treatment and Who Needs Permanent Treatment?

      hrp0084p2-574
    • Attention Deficit and Sluggish Cognitive Tempo Symptoms in Congenital Hypothyroidism: Results from a Case-Control Study

      hrp0084p2-575
    • Relationship between Cord Blood Phthalates and Maternal and Neonatal Thyroid Functions

      hrp0084p2-576
    • Osteoprotegerin and fT4 Levels in Subclinical Hypothyroidism of Childhood

      hrp0084p2-577
    • Cryptorchidism is Commonly Observed in Allan Herndon Dudley Syndrome

      hrp0084p2-578
    • Co-Existence of Thyroid Nodule and Thyroid Cancer in Children and Adolescents with Hashimoto Thyroiditis; A Single-Centre Study

      hrp0084p2-579
    • The Diagnostic, Treatment and Follow-Up Features of Childhood Thyroid Malignancies - A Preliminary Report

      hrp0084p2-580
• Poster Category 3
• • Adrenals 47
  • • New Mutation Causing Systemic Pseudohypoaldosteronism

      hrp0084p3-581
    • Rapid Molecular Diagnosis of CAH by Strip Hybridisation Assay in DEMPU

      hrp0084p3-582
    • Insufficient Mineralocorticoid Replacement as a Predictor Factor for the TART in Boys with Congenital Adrenal Hyperplasia

      hrp0084p3-583
    • CYP11B1 Gene Mutations in Patients with Congenital Adrenal Hyperplasia in Turkey

      hrp0084p3-584
    • Living with Adrenal Hyperplasia for Children in Primary School between 6 and 11 Years; Educational Innovation and Design of a Learning Tool for Therapeutic Education

      hrp0084p3-585
    • Longitudinal Changes During Prepubertal Years in Visceral Fat and Steroid Hormones - SGA vs AGA Children

      hrp0084p3-586
    • Adrenal Atrophy Secondary to Inappropriate Oral Administration of Exogenous Steroid Presenting with Hypercalcaemia

      hrp0084p3-587
    • Case Report: Hypothyroidism and Acth-Deficiency Caused by TBX 19 Mutation Coincidence or Pathogenetic Correlation?

      hrp0084p3-588
    • Deletion Mapping in Xp21 for a Family with Complex Glycerol Kinase Deficiency Using Array-Based Comparative Genomic Hybridisation

      hrp0084p3-589
    • Characterisation of Ovarian Adrenal Rest Tumours in Children and Adolescent Females with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

      hrp0084p3-590
    • Pseudohypoaldosteronism - Subtle Presentations with Critical Electrolyte Imbalances Experiences from One Hospital

      hrp0084p3-591
    • Atypical Prednisone-Metabolism: Pharmacological Studies in a Boy with Classical Adrenal Hyperplasia and Suspected Malcompliance

      hrp0084p3-592
    • CYP21A2 Gene Mutations Analysis in 21 Chinese Patients with Salt-Wasting form of Congenital Adrenal Hyperplasia

      hrp0084p3-593
    • X-Linked Adrenoleucodystrophy Presenting as Addison's Disease in Childhood: A Case Report

      hrp0084p3-594
    • Three Siblings with Corticosterone Methyloxidase Deficiency Type 2 due to c.1175T[gt]C Mutation +a Novel c.788T[gt]A Mutation in CYP11B2 Gene

      hrp0084p3-595
    • Transient Pseudohypoaldosteronism as a Complication of Infected Obstructive Uropathy in Infancy, a Case Series

      hrp0084p3-596
    • Generalised Glucocorticoid Resistance in an Adolescent Girl with Severe Hyperandrogenia without Mutations in NR3C1 Gene

      hrp0084p3-597
    • Remission with Cabergolin with Recurrent Hypercortisolism after Pituitary Surgery in Cushing's Disease

      hrp0084p3-598
    • Phaeochromocytoma in Placental Mesenchymal Dysplasia: Who Should We Screen and for How Long?

      hrp0084p3-599
    • A Double Dose of Triples

      hrp0084p3-600
    • Central Cortisol Deficiency (Isolated ACTH Deficiency) in a Child

      hrp0084p3-601
    • The First Case of Primary Generalized Glucocorticoid Resistance in Serbia in an 8-Year-Old Boy with G679S Mutation of the NR3C1 Gene

      hrp0084p3-602
    • A Case of Phaeochromocytoma Diagnosed as Adrenal Incidentaloma

      hrp0084p3-603
    • Severe High Blood Pressure with Renal Failure in a Neglected Case of 11[beta]-Hydroxylase Deficient Congenital Adrenal Hyperplasia

      hrp0084p3-604
    • Delayed Diagnosis of Salt Wasting Congenital Adrenal Hyperplasia, without Complications of Cortisol Deficiency: A Case Report

      hrp0084p3-605
    • Familial Hyperaldosteronism Type 1 in an Infant without Hypertension: How Important Could be the Early Treatment with Hydrocortisone?

      hrp0084p3-606
    • Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay

      hrp0084p3-607
    • A Prospective Evaluation of Anthropometric and Metabolic Profile Premature Adrenarche Patients

      hrp0084p3-608
    • The Prevalence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Children 0-18-Years-Old in Ukraine

      hrp0084p3-609
    • Development of a Patient with Severe Pseudohypoaldosteronism due to Mutation in the [alpha] Subunit of ENaC

      hrp0084p3-610
    • Methodological Considerations into the Approach for Genetic Diagnostics of Congenital Adrenal Hyperplasia in a Girl with SW Form and Relatively Higher Needs of Mineral Corticoids

      hrp0084p3-611
    • 11[beta]-Hydroxylase Deficiency: 20 Years Follow-Up

      hrp0084p3-612
    • Near-Final Height Outcome of Congenital Adrenal Hyperplasia due to Classic 21-Hydroxylase Deficiency in 55 Chinese Patients

      hrp0084p3-613
    • Late Diagnosis of Childhood Adrenal Insufficiency and Hypogonadotropic Hypogonadism due to DAX 1 Gene Mutation

      hrp0084p3-614
    • Paraaortical Paragangliomas as Incidental Findings in a Female Adolescent

      hrp0084p3-615
    • Nephrotic Syndrome Developing in a Girl with Classic 21-Hydroxylase Deficiency - First Report

      hrp0084p3-616
    • Conservative Treatment Allows Substantial Improvement of Neonatal Cushing Syndrome in McCune Albright Syndrome, a 2 Year Follow-up

      hrp0084p3-617
    • A CYP21A2 Gene Mutation in Patients with Congenital Adrenal Hyperplasia: Molecular Genetics Report from Saudi Arabia

      hrp0084p3-618
    • Adrenal Cortex Dysfunction as a Consequence of Chronic Therapies other than Oral Steroid Therapy - Cases Presentation

      hrp0084p3-619
    • A Rare Cause of Hypertension: Pseudophaeochromocytoma

      hrp0084p3-620
    • A Case of X-Linked Adrenal Hypoplasia Congenita - Adrenal Hypoplasia Congenita, Glycerol Kinase Deficiency and Duchenne Muscular Dystrophy

      hrp0084p3-621
    • Prenatal Treatment of Congenital Adrenal Hyperplasia: A Survey of Paediatric Endocrinologist

      hrp0084p3-622
    • A Case of ACTH Resistance with Generalized Hyperpigmentation at Birth

      hrp0084p3-623
    • Clinical and Genotypic Characterization of Simple Virilising Forms of Congenital Adrenal Hyperplasia

      hrp0084p3-624
    • 'Reexpansion' of Testicular Tissue after Testis-Sparing Surgery in an Adolescent

      hrp0084p3-625
    • Exogenous Cushing's Syndrome due to Misuse of Topical Corticosteroid Therapy

      hrp0084p3-626
    • Familial Glucocorticoid Deficiency - A Case Report

      hrp0084p3-627
  • Autoimmune 11
  • • Assessment of Ovarian Function and Reserve Based on Hormonal Parameters, Ovarian Volume, and Follicle Count in Euthyroid Girls with Hashimoto Thyroiditis

      hrp0084p3-628
    • Early-onset Type 1 Diabetes and Multiorgan Autoimmunity in a Girl with Partial Monosomy 2q and Trisomy 10p

      hrp0084p3-629
    • CTLA4 A49G and C60T Genetic Polymorphism in Croatian Children and Young Adults with Autoimmune Thyroid Disease

      hrp0084p3-630
    • Oocyte Cryopreservation in a Patient with Premature Ovarian Failure due to Autoimmune Polyendocrine Syndrome Type 2

      hrp0084p3-631
    • Thyroid Function and Autoimmunity in Children with Newly Diagnosed Type 1 Diabetes Mellitus

      hrp0084p3-632
    • Hypercalcaemia as an Indication of Adrenal Insufficiency in a Patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

      hrp0084p3-633
    • Stevens Johnson Syndrome in a Case with Type 1 Diabetes Mellitus: Relation or Coincidence?

      hrp0084p3-634
    • Radiologic Appearance is Important for Diagnosis of Autoimmune Hypophysitis

      hrp0084p3-635
    • Functional Status of the Thyroid Gland in Children with Diabetes Mellitus Type 1

      hrp0084p3-636
    • About a Case of Basedow-Graves' Disease in a Infant

      hrp0084p3-637
    • The Autoimmune Polyendocrinopathies in Children and Adolescents

      hrp0084p3-638
  • Bone 47
  • • Is Serum Serotonin Involved in the Bone Loss of Young Females with Anorexia Nervosa?

      hrp0084p3-639
    • Cranial MR Spectrometry Findings of Patients Aged 10-15 Years with Diagnosis of Rickets

      hrp0084p3-640
    • Evaluation of Bone Geometry, Quality and Bone Markers in Children with Type 1 Diabetes

      hrp0084p3-641
    • Comparison of Treatment Alternatives for Hypercalcemia due to Vitamin D Intoxication in Children

      hrp0084p3-642
    • Influence of Birth Weight and Total Body Less Head Bone Mineral Contents in 10-18 Korean Adolescents: Results from the Korea National Health and Nutrition Examination Surveys 2008-2010

      hrp0084p3-643
    • Clinical and Molecular Characterisation of Patients with Pseudohypoparathyroidism

      hrp0084p3-644
    • Long Term Effects of Bisphosphonate Treatment in a Case with Infantile Onset Severe form of Juvenile Paget's Disease

      hrp0084p3-645
    • Diagnosis and Management of Gorham-Stout Disease: A Protocol Proposal

      hrp0084p3-646
    • Vitamin D Dependent Rickets Type 1A with Genetic Analysis in Three Chinese Children

      hrp0084p3-647
    • A Novel Mutation in CYP24A1 Gene in an Infant with Severe Hypercalcaemia and Unique Neurological Presentation

      hrp0084p3-648
    • Continuous 1-34 rhPTH Therapy in a Girl with a PTH-Gene Defect

      hrp0084p3-649
    • Prevalence of Vitamin D Deficiency in Sickle Cell Anaemic Children in Jos, Nigeria

      hrp0084p3-650
    • Vitamin D Level and Vitamin D Receptor DNA in Children with Diabetes Mellitus Studying Sequence Analyse and Polimorphism

      hrp0084p3-651
    • Endocrine Function, Vitamin D and Bone Mass Status in [beta]-Thalassemia Major

      hrp0084p3-652
    • Late Sequel of Meningococcemia: Presenting as Skeletal Dysplasia

      hrp0084p3-653
    • Abstract unavailable

      hrp0084p3-654
    • A Longitudinal, Prospective, Long-Term Registry of Patients with Hypophosphatasia

      hrp0084p3-655
    • Retrospective Evaluation of Patients Diagnosed as Nutritional Rickets: A Single Centre Study

      hrp0084p3-656
    • Discrepancy in Bone Age Rating Using Tanner-Whitehouse Rating and Automated Bone Age Determination in a Child Who was Later Diagnosed with Metaphyseal Dysplasia

      hrp0084p3-657
    • Vitamin Levels in Pregnant Women and in Cord Blood in Newborn in Our Area - Preliminary Results

      hrp0084p3-658
    • Vitamin D Status in Romanian Children 0-18 Years - Should we be More Careful Regarding Supplementation?

      hrp0084p3-659
    • 4 Years Follow-Up for 25OHD and iPTH in Vitamin D Substituted Patients with Diabetes Mellitus 1: An Unicentric Prospective Study

      hrp0084p3-660
    • Bone Mineral Density in Prader-Willi Females During the Transition Phase

      hrp0084p3-661
    • Seasonal Differences in Plasma 25-OH Vitamin D Concentrations in Cord Blood

      hrp0084p3-662
    • Spondyloenchondrodysplasia with Immune Dysregulation and without Neurological Involvement: Report of Two Siblings with ACP5 Gene Mutation

      hrp0084p3-663
    • Short Stature in Osteogenesis Imperfecta is not Caused by Deficiencies in IGF1 or IGF-BP3

      hrp0084p3-664
    • Vitamin D Status in Children in the Western Part of Turkey

      hrp0084p3-665
    • Parathyroid Adenoma Should be Considered in the Management of Hypophosphataemic Rickets

      hrp0084p3-666
    • Neurological Clinic Delays the Diagnosis of Pseudohypoparathyroidism

      hrp0084p3-667
    • Treatment of Life Threatening Hypercalcaemia in Two Infants

      hrp0084p3-668
    • Comparison of the Levels of Vitamin D in Children in Northern Spain (Domestic or Foreign)

      hrp0084p3-669
    • A Cause of Severe Hypercalcaemia: Overdose or Hypersensitivity to Vitamin D?

      hrp0084p3-670
    • How are we Using Bisphosphonates in Children with Secondary Osteoporosis in a Tertiary Centre?

      hrp0084p3-671
    • Pseudohypoparathyroidism: Clinical Heterogeneity Illustrated by Three Different Cases

      hrp0084p3-672
    • Successful Treatment of Severe Hypercalcemia in an Infant with Williams Syndrome Using a Single Infusion of Pamidronate Followed by Low Calcium Diet

      hrp0084p3-673
    • 25-Hydroxy Vitamin D Levels in Patients with Chronic Diseases on Corticosteroid Treatment

      hrp0084p3-674
    • Pseudohypoparathyroidism Type 1b, a Rare Diagnosis in Adolescents

      hrp0084p3-675
    • What Lies Beneath: An Enigma of Missed Opportunities and Calcium Problem

      hrp0084p3-676
    • A Novel Homozygous Six Nucleotide Deletion in GLUT2 Gene in a Fanconi-Bickel Syndrome Family

      hrp0084p3-677
    • Final Height in a Patient with Fanconi Syndrome and GH Deficiency Treated with GH

      hrp0084p3-678
    • Carpal Spasm in Hypophosphataemic Patient

      hrp0084p3-679
    • Efficacy and Safety of Oral Alendronate Treatment in Children and Adolescents with Osteoporosis

      hrp0084p3-680
    • A Case of Vitamin D Deficient Rickets Showing Resistance to the Treatment of Active Vitamin D: Severe Calcium Deficiency Cause Vitamin D Resistance

      hrp0084p3-681
    • Metadiaphyseal Dysplasia Associated with Confirmed GH Deficiency: Family Report

      hrp0084p3-682
    • Hypocalcaemia by Parathyroid Dysfunction in Children and Adolescents

      hrp0084p3-683
    • VDR Gene Analysis Results of Four Patients with Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

      hrp0084p3-684
    • Nutritional Rickets in a Bottle-Fed 2 Months Old Baby

      hrp0084p3-685
  • Diabetes 94
  • • A Rare Reason of Hyperinsulinism: Munchausen Syndrome by Proxy

      hrp0084p3-686
    • Correlation of Vitamin D Levels with Glycaemic Control, Total Daily Insulin Dose, BMI, and Ethnicity in Paediatric Patients with Type 1 Diabetes Mellitus

      hrp0084p3-687
    • Management of Children with Type 1 Diabetes During Illness (Sick Days): Is There a Need for National Consensus Guideline?

      hrp0084p3-688
    • Incretin Secretion was not Impaired in Obese Korean Children and Adolescents with Type 2 Diabetes

      hrp0084p3-689
    • Neonatal Diabetes Mellitus: Clinical Feature and Outcome

      hrp0084p3-690
    • Acute Kidney Injury as a Severe Complication of Diabetic Ketoacidosis

      hrp0084p3-691
    • BMI in Children and Young People with Type 1 Diabetes in England and Wales

      hrp0084p3-692
    • Blood vs Urine Ketone Monitoring in a Pediatric Cohort of Patients with Type 1 Diabetes: a Crossover Study

      hrp0084p3-693
    • Elastargene 3C Helps to Improve HbA1c in Children and Adolescents with Type 1 Diabetes Using Insulin Pump Therapy

      hrp0084p3-694
    • Intraosseous Infusion: Sometimes the Only Way to Treat Severe Diabetic Ketoacidosis

      hrp0084p3-695
    • Influence of hypoglycemic episodes on attention and behavioural abnormalities in diabetic children

      hrp0084p3-696
    • Recurrent Ketosis after Prolonged Exercise in Type 1 Diabetes: The Need for Glycogen Replacement Strategies: Case Report

      hrp0084p3-697
    • Adherence to Diabetic Ketoacidosis Management Protocol: a Paediatric Centre Experience

      hrp0084p3-698
    • Continuous Intersticial Glucose Monitoring in Early Detection of Glucose Tolerance Abnormalities in Adolescents with Cystic Fibrosis

      hrp0084p3-699
    • Health-Related Quality of Life in Children and Adolescents with Type 1 Diabetes Mellitus in Spain: Results From the CHRYSTAL Study

      hrp0084p3-700
    • HbA1c Rather Than BMI Lifestyle and Adherence to Mediterranean Diet is the Major Determinant of Triglyceride/HDL Cholesterol Ratio in Adolescents with Type 1 Diabetes

      hrp0084p3-701
    • Non-HDL Cholesterol in Diabetic Children: Treatment Recommendations Considering Glycaemic Control, BMI, Age, Gender, and Generally Accepted Cut Points

      hrp0084p3-702
    • A 1-year Follow-up Study to Evaluate Efficacy and Compliance of Continuous Glucose Monitoring in Children with Type 1 Diabetes Mellitus

      hrp0084p3-703
    • Diabetic Ketoacidosis Treatment: Experience from a Paediatric Tertiary Centre (2004-2014)

      hrp0084p3-704
    • Treatment of Dyslipidemia in Children and Adolescents with Diabetes Mellitus Type 1

      hrp0084p3-705
    • Hearing Changes in Children and Adolescents with Type 1 Diabetes Mellitus

      hrp0084p3-706
    • A Novel Genetic Mutation in a Turkish Family with GCK-MODY

      hrp0084p3-707
    • Incidence and Risk Factors of Diabetic Nephropathy in Children and Adolescents as Per Republic of Uzbekistan National Register

      hrp0084p3-708
    • Elevated HbA1c and Cardiometabolic Risk Factors in Korean Children and Adolescents: Data from the Korean National Health and Nutrition Examination Survey, 2011-2012

      hrp0084p3-709
    • How Appropriate are the Lengths of Syringe Needles Used for Subcutaneous Injections to the Children at School Age

      hrp0084p3-710
    • Heterogeneous Presentation of Paediatric Hyperglycaemic Hyperosmolar State - A Case Series

      hrp0084p3-711
    • A Novel Compound Heterozygous Mutation in an Adolescent with Insulin-dependent Diabetes: A Case Report of Wolfram Syndrome

      hrp0084p3-712
    • Sirolimus Therapy in an Infant with Persistent Hyperinsulinaemic Hypoglycaemia

      hrp0084p3-713
    • Permanent Neonatal Diabetes Mellitus in Beckwith Wiedemann Syndrome: An Unusual Co-Occurrence

      hrp0084p3-714
    • Prevalence of Vascular Complications in Children with Type 1 Diabetes in Ireland

      hrp0084p3-715
    • Hyperglycaemia During Chemotherapy for Acute Lymphoblastic Leukaemia Among Taiwanese Children

      hrp0084p3-716
    • Seip-Berardinelli Syndrome in a Patient Referred by Low Weight Gain

      hrp0084p3-717
    • Effect of Reward-based Motivation on Metabolic Control in Children and Adolescents with Type 1 Diabetes Mellitus

      hrp0084p3-718
    • Fanconi-Bickel Syndrome due to a Novel SLC2A2 Mutation Presenting with Transient Neonatal Diabetes

      hrp0084p3-719
    • Cardiovascular Autonomic Neuropathy and Early Atherosclerosis in Adolescent Type 1 Diabetic Patient

      hrp0084p3-720
    • GAD Antibodies Negative Type 1 Diabetes and Dravet Syndrome

      hrp0084p3-721
    • Social Risk Assessment in Children with Diabetes Mellitus to Plan Medical and Social Care

      hrp0084p3-722
    • The Investigation of Frequency of Diabetic Ketoacidosis in Children with New-onset Diabetes Mellitus Type 1

      hrp0084p3-723
    • Study of Adiponectin Level in Diabetic Adolescent Girls in Relation to Glycaemic Control and Complication of Diabetes

      hrp0084p3-724
    • Frequent and Prolonged Daytime Hypoglycemia in Diabetic Children Detected by Continuous Glucose Monitoring: A Problem of Hypoglycaemia Unawareness?

      hrp0084p3-725
    • Neonatal Diabetes Mellitus due to Insulin Gene Mutation

      hrp0084p3-726
    • Single Centre Experience of Neonatal Diabetes

      hrp0084p3-727
    • Assessment of the Effect of the Diagnosis of Type 1 Diabetes Mellitus in the Nutritional Habits of Unaffected Family Members

      hrp0084p3-728
    • Lifestyle and Metabolic Control in Adolescents with Type 1 Diabetes

      hrp0084p3-729
    • [beta]-Cells' Functional Exhaustion at Type 1 Diabetes Onset may Lead to Early Microvascular Complications

      hrp0084p3-730
    • Influence of Pancreatic Autoinmunity in the Onset and Progression of Diabetes in Paediatric Population

      hrp0084p3-731
    • Severe Insulin Resistance and Dyslipidaemia with Unremarkable Fat Distribution in an Adolescent Girl due to Mutation in the PPARG Gene (Familial Partial Lipodystrophy Type 3)

      hrp0084p3-732
    • Use of Smartphone, a Cellular Glucometer and Social Media App in the Management of Type 1 DM in the Adolescent Population: The Future of Diabetes Care

      hrp0084p3-733
    • A Boy with Wolfram Syndrome

      hrp0084p3-734
    • Cardiovascular Risk Factors in Children and Adolescents with Type 1 diabetes

      hrp0084p3-735
    • Megaloblastic Anaemia and Diabetes in a Young Girl

      hrp0084p3-736
    • Audit Assessing Glycaemic Control in Children Aged Less than 16 Years with Type 1 Diabetes in Malta Over the Period 2013-2014

      hrp0084p3-737
    • Prestarium Pharmacogenetic Efficacy in Predicting Diabetic Nephropathy in Children and Adolescents

      hrp0084p3-738
    • Assessment of Quality of Life in Adolescents with Type 1 Diabetes; a Pilot Study

      hrp0084p3-739
    • Mody3 Early Identification and Diagnosis

      hrp0084p3-740
    • Low fT3 Syndrome due to Metabolic Acidosis/Ketoacidosis in Type 1 Diabetes Mellitus (Type 1 DM)

      hrp0084p3-741
    • Coping Styles of Adolescents with Type 1 Diabetes and their Parents: Association with Metabolic Control and Disease Duration

      hrp0084p3-742
    • Examination of Diabetes Nurse Educator Guided Diabetes Care Team in Pediatric Type 1 Diabetes

      hrp0084p3-743
    • Transition During Adolescence, is there Room to Improve?

      hrp0084p3-744
    • Vitamin D Status in Egyptian Children with T1D and the Role of Vitamin D Replacement on Glycaemic Control

      hrp0084p3-745
    • Residual C-Peptide in Paediatric Patients with Type 1 Diabetes

      hrp0084p3-746
    • A Novel Nonsense Mutation in the WFS1 Gene Causes Wolfram Syndrome

      hrp0084p3-747
    • Health Literacy of Caregivers of Children with Type 1 Diabetes: A Pilot Study on Impact on Glycaemic Control in an Arabic-Speaking Population

      hrp0084p3-748
    • Achievement of Therapy Targets in Children and Adolescents with Type 1 Diabetes Mellitus at the [ldquo]Diabetes School[rdquo]

      hrp0084p3-749
    • Oral Glucose Tolerance Test as a Routine Tool to Discriminate High Risk Individuals of Type 2 Diabetes in Child Obesity

      hrp0084p3-750
    • Fasting the Holy Month of Ramadan in Older Children and Adolescence with Type 1 Diabetes in Kuwait

      hrp0084p3-751
    • The Long-Term Insulin Management with Premixed Insulin in Neonates and Infants with Diabetes

      hrp0084p3-752
    • Gestational Diabetes Mellitus: How Well-Established are the AWMF Guidelines and Which of the Cord Blood Parameters Suggest an Experienced Gestational Diabetes?

      hrp0084p3-753
    • Thyroid Function and Prevalence of Celiac Disease in Children with T1D in Lithuanian Pediatric Population

      hrp0084p3-754
    • Severe Hypertriglyceridaemia in a Child with Severe Diabetic Ketoacidosis

      hrp0084p3-755
    • Factors Related to Progression to Macroalbuminuria in Type 1 Diabetic Children with Microalbuminuria

      hrp0084p3-756
    • Acute Painful Neuropathy in a Teenager with Type 1 Diabetes (T1D) and Eating Disorders

      hrp0084p3-757
    • A Case of Tacrolimus Related Posttranslated Diabetes Mellitus (PTDM)

      hrp0084p3-758
    • Short-Term Use of Continuous Glucose Monitoring System in Paediatric Patients with Type 1 Diabetes Mellitus and Correlation with Short-Term Improvement in Glycaemic Control

      hrp0084p3-759
    • Neonatal Diabetes - the Great Masquerader: Experiences from One Hospital

      hrp0084p3-760
    • Daily Subcutaneous Insulin Requirements of Children with Type 1 Diabetes after Diabetic Ketoacidosis Treatment

      hrp0084p3-761
    • Metabolic Control and Glycemic Variability in Pediatric Patients with Type 1 Diabetes in Multiple Daily Injections Therapy Using Automated Bolus Calculator Glucometer

      hrp0084p3-762
    • Maturity Onset Diabetes of the Young: Just Think about It

      hrp0084p3-763
    • The Role of KCNJ11 Gene in Neonatal Diabetes

      hrp0084p3-764
    • A Case of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes) Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea Therapy

      hrp0084p3-765
    • Two Permanent Neonatal Diabetes Mellitus Cases due to Mutation in abcc8 Genes in Vietnam: Clinical Features and Long - Term Outcome in Treating by Sulfonylurea (2008-2014)

      hrp0084p3-766
    • Type 1 Diabetes in Pediatric Patients: Demographic and Clinical Characterisation

      hrp0084p3-767
    • The Missing Link in Neonatal Diabetes

      hrp0084p3-768
    • Cutaneous Manifestations among Type 1 Diabetic Patients in DEMPU

      hrp0084p3-769
    • Particularites de la prise en charge du diabete Type 1 chez des enfants dont la revelation est survenue avant l'age de five ans

      hrp0084p3-770
    • Evaluation of Boluses Delivered by Insulin Pump in Type 1 Diabetes Mellitus Paediatric Patients

      hrp0084p3-771
    • Insulin Therapy in the Pediatric Age-Group

      hrp0084p3-772
    • Mauriac Syndrome, a Rare Complication of Type 1 Diabetes Mellitus

      hrp0084p3-773
    • Is Autoimmunity on the Increase in Type 1 Diabetes Mellitus? Presentation of Multiple Auto-Immune Disorders at Diagnosis of Type 1 Diabetes Mellitus

      hrp0084p3-774
    • Type 1 Diabetes Mellitus and Precocious Puberty: Rare Association

      hrp0084p3-775
    • School Aged Presentation of Diabetes Mellitus Type 1 with Repeat Hyperglycaemia, Positive Pancreatic Autoimmunity and Related Genetic Risks

      hrp0084p3-776
    • Clinical Changes Observed After System Implementation of JUNIORSTAR Systems in Children with Dm1a

      hrp0084p3-777
    • Metabolic Control in Children in Northern Spain DM1A with Deficit of Vitamin D

      hrp0084p3-778
    • Effects of Educational Interventions for Children and Adolescents with Type 1 Diabetes Mellitus

      hrp0084p3-779
  • DSD 31
  • • Clinical Findings, Endocrine Profile and Genetic Features of 5[alpha]-Reductase-2 Deficiency

      hrp0084p3-780
    • Aromatase Deficiency due to Novel CYP19A1 Mutation in an Egyptian Patient with Ambiguous Genitalia

      hrp0084p3-781
    • The Time of First Presentation at the Department of Paediatric Endocrinology of Patients with 46, XY DSD

      hrp0084p3-782
    • Impact of Neonatal Exposure to Different Doses of Bisphenol A on the Hypothalamic-Pituitary-Testicle Axis in Male Rat

      hrp0084p3-783
    • A Cross-Sectional Growth Reference and Chart of Stretched Penile Length for Japanese Boys Aged 0-7 Years: Ethnic Differences and Secular Changes

      hrp0084p3-784
    • Recurrent Orchitis in a Patient with True Hermaphroditism

      hrp0084p3-785
    • Isolated Persistent Pubertal Gynecomastia in Three Adolescent Males as the Only Phenotypic Expression of PAIS with Androgen Receptor Gene Mutations

      hrp0084p3-786
    • Identical Twins Raised as Sister and Brother

      hrp0084p3-787
    • Persistent Mullerian Duct Syndrome Associated with Anorchia Caused by a Compound Heterozygous Mutation in the AMHR-II Gene

      hrp0084p3-788
    • A Novel Mutation in Steroidogenic Factor Gene in a Patient with 46, XY DSD without Adrenal Insufficiency

      hrp0084p3-789
    • Evaluation of Two New Anti-Mullerian Hormone Assays for the Investigation of Disorders of Sexual Development in Neonates

      hrp0084p3-790
    • 'Female', 'Male', or 'Between' in a 46, XY-Patient with a 17sz-HSD3-Mutation

      hrp0084p3-791
    • Physical Assessment and Growth Curve of 46, XY Disorders of Sex Development Children Who Aged 0-16-Years-Old

      hrp0084p3-792
    • A Novel Mutation of the AR Gene Causes Androgen Insensitivity Syndrome: A Case Report

      hrp0084p3-793
    • A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

      hrp0084p3-794
    • Polymorphisms and Mutations of the Genes INSL3 and HOXD13 in the Pathogenesis of Isolated Cryptorchidism in Greece

      hrp0084p3-795
    • Tumours of Gonads in Patients with Disorders of Sex Development - 46,XY Gonadal Dysgenesis

      hrp0084p3-796
    • Screening for Y Microdeletions in Patients with Hypergonadotropic Hypogonadism due to Disorder of Sexual Development

      hrp0084p3-797
    • 'I am a Boy Since 8-Years-Old': Female During Childhood, Virilization at Puberty

      hrp0084p3-798
    • A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

      hrp0084p3-799
    • A Novel Mutation of the AMH in an Egyptian Male with Persistent Mullerian Duct Syndrome

      hrp0084p3-800
    • Pseudo-Precocious Puberty in Androgen Insensitivity Syndrome Secondary to a Prepubertal Oestrogen Producing Sertoli Cell Tumour

      hrp0084p3-801
    • Gender Reassignment in Muslim Communities

      hrp0084p3-802
    • A Case of Klinefelter Syndrome with an Atypical Presentation

      hrp0084p3-803
    • A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

      hrp0084p3-804
    • Patient with Primary Amenorrhea and Glomerular Nephropathy

      hrp0084p3-805
    • The Advent of Disorders of Sexual Differentiation Team at a Major Teaching Nigeria: Impact on Patient Management and Outcome

      hrp0084p3-806
    • An Interesting Case of a Phenotypic Female with a 46,XY Karyotype, Uterus and Menstruation

      hrp0084p3-807
    • Characteristic of Children with Mixed Gonadal Dysgenesis

      hrp0084p3-808
    • A 19-Year-Old Adolescent with Short Stature and Scrotal Tumour

      hrp0084p3-809
    • An Atypical Case of Mayer-Rokitansky-Kuster-Hauser Syndrome with Hyperandrogenemia

      hrp0084p3-810
  • Endocrine Oncology 17
  • • Cushing's Syndrome due to Ectopic ACTH Secretion by a Germline Tumour in the Cross-tail Area in a 7 Month Old Female Infant

      hrp0084p3-811
    • Uterine Bleeding: A Rare Side Effect of Mitotane Treatment for Recurrent Adrenal Carcinoma

      hrp0084p3-812
    • Metabolic Syndrome in Childhood Acute Lymphoblastic Leukaemia Survivors

      hrp0084p3-813
    • Results of GH Treatment in Childhood Brain Tumours Survivors

      hrp0084p3-814
    • Craniopharyngioma - Symptoms, Treatment and Follow Up - An Analysis of 100 Cases

      hrp0084p3-815
    • Von Hippel-Lindau Disease in an Adolescent with a Newly Described Alteration in the VHL Gene

      hrp0084p3-816
    • Two Synchronous Central Nervous System Tumors in a Child with Neurofibromatosis Type 1

      hrp0084p3-817
    • Endocrine Evaluation in Children and Adolescents Submitted to Allogeneic Bone Marrow Tranplantation

      hrp0084p3-818
    • Early Endocrine Complications in Survivors of Childhood Malignant Tumours

      hrp0084p3-819
    • AIP Polymorphism in Familiar Isolated Pituitary Adenomas: Case Report

      hrp0084p3-820
    • Primary Hypogonadism after Haematopoietic Stem Cell Transplant in Paediatric Patients with Cancer

      hrp0084p3-821
    • Galactocele: A Rare Case of Breast Enlargement Among Children

      hrp0084p3-822
    • LHRH Analogues Successfully Suppress Menstruation During Chemotherapy in Teenagers and Young Adults

      hrp0084p3-823
    • Suprasellar Brain Tumours Related Endocrinopathies

      hrp0084p3-824
    • GH and Prolactin Secreting Adenoma in an Adolescent Boy

      hrp0084p3-825
    • The Evaluation of Bone Mass Density in Patients after Therapy of Solid Tumours

      hrp0084p3-826
    • The Pathway to the True Diagnosis

      hrp0084p3-827
  • Fat 88
  • • Long-Term Effects of a Ketogenic vs a Hypocaloric Diet in Children and Adolescents with Obesity

      hrp0084p3-828
    • Metabolically Unhealthy Obese Children Under the Risk of Exercise Induced Chronotropic Incompetence

      hrp0084p3-829
    • Determinants of Serum Interleukin 1 - Receptor Antagonist Concentrations in 12-Year-Old Children Born Small or Appropriate for Gestational Age

      hrp0084p3-830
    • Evaluation of Renal Functions in Obese Children and Adolescents with Cystatin-C and Creatinin Based GFR: is Increasing GFR Reflected Hyperfiltration and Possible Renal Damage in Future?

      hrp0084p3-831
    • The French Experience in Bariatric Surgery 'Laparoscopic Adjustable Gastric Banding' in Adolescence

      hrp0084p3-832
    • Correlation of Serum FGF-21 Levels with Metabolic Parameters in Korean Obese Children

      hrp0084p3-833
    • Liver Steatosis in Obese Children Courses with Enhanced Insulin Resistance and Dyslipidaemia, Which are Influenced by Gender, Puberty, Race and Body Fat Distribution

      hrp0084p3-834
    • How Early are Vascular Changes in Obese Children Among North Indian Population?

      hrp0084p3-835
    • Prader-Willi Syndrome - A General Picture of 51 Cases

      hrp0084p3-836
    • Comparison of Two Family-Intervention (Parents Only vs Parent and Child) in the Treatment of Childhood Obesity

      hrp0084p3-837
    • Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance

      hrp0084p3-838
    • Age at Menarche in Relation to BMI. Data from the Hellenic Action Plan for the Assessment, Prevention and Treatment for Childhood Obesity

      hrp0084p3-839
    • Are Age and Initial BMI-SDS in Obese Children and Adolescents Associated with the BMI-SDS Courses During and after the Attendance of an Inpatient Weight-Loss Program (LOGIC-Trial)?

      hrp0084p3-840
    • Turn off and Turn in: The Influence of Television Viewing and Sleep on Lipid Profiles in Children

      hrp0084p3-841
    • Hepatic Steatosis Influences Significantly the Cardiovascular Risk in Children with Metabolic Syndrome

      hrp0084p3-842
    • Increased Glucagon-Like Peptide-1 Response to Oral Glucose in Prepubertal Obese Children

      hrp0084p3-843
    • The Risk of Metabolic Syndrome among Dyslipidemic Children and Adolescents

      hrp0084p3-844
    • RNAi as Tool to Study Molecular Mechanisms of Metabolic Adverse Reactions in Caenorhabditis Elegans

      hrp0084p3-845
    • Hypertriglicerydaemia in a Boy with Bardet-Biedl Syndrome - Case Report

      hrp0084p3-846
    • Uric Acid and Triglycerides/HDL Ratio as a Predisposing Factor for Metabolic Syndrome in Children

      hrp0084p3-847
    • Increased Prevalence of 25-Hydroxyvitamin D Insufficiency and Deficiency among Overweig