hrp0092p3-318 | Late Breaking Abstracts | ESPE2019

Novel Mutation in HNF4-Alpha Gene and Reclassification of Diabetes in a Family

Miguel Gomes Maria , Lemos Manuel C. , Marques Olinda , Martins Sofia , Antunes Ana

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

hrp0089p3-p057 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Results of 22 Weeks of Burosumab Therapy in a Patient with Severe Bone Deformities due to XLH

Ruiz-Ocana Pablo , Roldan-Cano Virginia , Castellano-Mendoza Ana , Salazar-Oliva Patricia , Lechuga-Sancho Alfonso

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

hrp0089p2-p161 | Fat, Metabolism and Obesity P2 | ESPE2018

Metabolic Alterations and Weight Status in Children at 8 Years: A Prospective Cohort Study

Riano-Galan Isolina , Fernandez-Somoano Ana , Rodriguez-Dehli Cristina , Venta Obaya Rafael , Tardon Adonina

Background: Prevalence of childhood obesity (OB) represents a major public health concern, given the tracking of body weight from childhood to adult age and obesity-related morbidity.Objective: To describe prevalence of overweight (OW) and OB in children at 8 years and investigate relationship with metabolic alterations (lipid profile and insulin resistance).Methods: 485 pregnant mothers recruited between 2004-2007 and 409 children...

hrp0089p2-p168 | Fat, Metabolism and Obesity P2 | ESPE2018

Weight Loss Outcomes in Two-Year Multidisciplinary Lifestyle Intervention Program Involving Obese Children and their Parents

Krnic Nevena , Uoic Anita Spehar , Bogdanic Ana , Kubat Katja Dumic , Pavic Eva , Putarek Natasa Rojnic

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

hrp0089p3-p239 | Growth & Syndromes P3 | ESPE2018

Pharmacoeconomic and Adherence Analysis in Growth Hormone According to Galenic Presentation: In Vivo Study vs In Vitro

Diez-Lopez Ignacio , Sarasua Ainhoa , Lorente Isabel , Minguez Ana Cristinaa , Martinez Carlos

Currently in Spain, treatment with GH is approved for hospital use with different formulations (JM), multidose vials (VM) and systems with electronic self-injection devices (DE). The long-term treatments, involves the lack of adherence to GH in pediatric patients, it has been estimated a lack of adherence between 5 and 82%. The main objective of this study is to perform a comparative analysis of costs and product loss among the different GH presentations approved in Spain in p...

hrp0089p3-p312 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Premature Thelarche Followed by Acute Lymphoblastic Leukemia in a 1.5 Year Old Girl

Krstevska-Konstantinova Marina , Stamatova Ana , Kuzevska-Maneva Konstandina , Kocheva Svetlana , Conevska Biljana , Martinova Kata , Jovanovska Aleksandra

Introduction: Premature thelarche is considered a benign condition of breast development in prepubertal girls. It usually resolves after a certain period of time.Materials and methods: A 1.5 year old girl was referred to the pediatric Endocrinology department due to breast development which appeared two months prior to the visit.Results: Upon clinical examination the patient had Tanner breast stage M2-3 bilaterally, but otherwise a...

hrp0089p3-p362 | Thyroid P3 | ESPE2018

Graves’ Disease in a Pediatric Population: Results from the Last 17 Years at a Pediatric Endocrinology Unit

Carvalho Fabia , Paredes Silvia , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Introduction: GravesÂ’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

hrp0086fc6.4 | Syndromes: Mechanisms and Management | ESPE2016

Chromosome 14 Imprinted Region DLK1/GTL2 Disruption: An Alternative Molecular Etiology for Silver-Russell Syndrome

Geoffron Sophie , Habib Walid Abi , Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

hrp0086fc6.5 | Syndromes: Mechanisms and Management | ESPE2016

Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology

Canton Ana , Homma Thais , Furuya Tatiane , Roela Rosimeire , Arnhold Ivo , Jorge Alexander

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

hrp0086rfc7.8 | Gonads & DSD | ESPE2016

Premature Adrenarche in Girls at Pubertal Onset is Associated with High Androgens, but Lower AMH Concentrations

Merino Paulina M , Pereira Ana , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...