hrp0082p3-d2-774 | Fat Metabolism & Obesity (1) | ESPE2014

The Prevalence of 25-Hydroxyvitamin D Insufficiency and Deficiency Among Overweight and Obese Children and Adolescents in Greece

Giannios Christos , Farakla Ioanna , Papadopoulos Georgios , Bakopoulou Ioanna , Nicolaides Nicolas C , Papathanasiou Chryssanthi , Drakopoulou Maria , Chrousos George P , Charmandari Evangelia

Background: The prevalence of obesity has increased dramatically in Greece in the last decades, and more than 30% of children and adolescents are currently overweight or obese. Obesity is associated with decreased circulating 25-hydroxyvitamin D concentrations, which might predispose to metabolic syndrome and cardiovascular morbidity and mortality.Objective and hypotheses: To determine serum 25-hydroxyvitamin D concentrations and their relationship to ca...

hrp0084p1-19 | Bone | ESPE2015

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

Altowati Mabrouka , Malik Umm-Ie-Salma , Shepherd Sheila , Mcgrogan Paraic , Russell Richard , Ahmed Faisal , Wong S C

Background: Biologic therapy may improve bone health, body composition, and muscle function in children with inflammatory bowel disease but the extent of improvement are unclear.Objective and hypotheses: To evaluate bone and muscle mass in children with inflammatory bowel disease (IBD) following infliximab (IFX) therapy.Method: Prospective longitudinal study of 19 children (12M), 17 Crohn’s disease (CD), one ulcerative colitis...

hrp0084p2-168 | Adrenals | ESPE2015

The Natural Mutant Receptor hGRαT556I Causes Primary Generalised Glucocorticoid Resistance Through Decreased Affinity for the Ligand and Impaired Interaction with the GRIP1 Coactivator

Nicolaides Nicolas C , Skyrla Eirini , Vlachakis Dimitrios , Psarra Anna-Maria G , Sertedaki Amalia , Kossida Sophia , Charmandari Evangelia

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

hrp0084p2-447 | Growth | ESPE2015

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

Belinchon Alberta , Benito-Sanz Sara , de la Torre Carolina , Barreda-Bonis Ana C , Gonzalez-Casado Isabel , Heath Karen E

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

hrp0094p1-53 | Bone B | ESPE2021

Growth and Puberty in Patients with Osteogenesis Imperfecta

Pınar Ozturk Ayşe , Ozturan Esin Karakılıc , Poyrazoğlu Şukran , Baş Firdevs , Darendeliler Feyza ,

Aim: Osteogenesis imperfecta (OI) is a genetic disease of extracellular matrix presenting with varying degrees of skeletal fragility. The study aims to evaluate growth and pubertal characteristics of 83 patients with OI.Materials and methods: Patients were classified according to Sillence clinical classification criteria. Demographic data, clinical findings, growth and pubertal characteristics were recorded from medical charts, retrospec...

hrp0094p1-106 | Adrenal B | ESPE2021

Plasma Proteomics in Healthy Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies a Novel Proteomic Signature

Nicolaides Nicolas C. , Makridakis Manousos , Stroggilos Rafael , Koniari Eleni , Papageorgiou Ifigeneia , Sertedaki Amalia , Zoidakis Jerome , Charmandari Evangelia ,

Background: Tissue sensitivity to glucocorticoids is characterized by significant inter-individual variation in terms of therapeutic response and susceptibility to several stress-related disorders. Proteomics approaches, combined with appropriate bioinformatics analysis, offer a comprehensive description of molecular phenotypes with clear links to human disease pathophysiology.Objective and Hypotheses: To investigate the usefulness of pl...

hrp0094p1-128 | Growth A | ESPE2021

Evaluation of Persistent Short Stature in Children Born Small for Gestational Age without Catch-up Growth

Pınar Ozturk Ayşe , Ozturan Esin Karakılıc , Poyrazoğlu Şukran , Baş Firdevs , Darendeliler Feyza ,

Aim: The majority of children born small for gestational age (SGA) demonstrate spontaneous catch-up growth in height by the age of two years; however, approximately 10-15% of SGA newborns are at risk of having subnormal growth and persistent short stature (PSS).Method: We evaluated clinical, anthropometric, and laboratory characteristics of the 86 children with PSS who were born SGA.Results...

hrp0094p1-129 | Growth A | ESPE2021

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

Ciancia Silvia , Goedegebuure Wesley J. , Grootjen Lionne N. , Hokken-Koelega Anita C.S. , Kerkhof Gerthe F. , van der Kaay Danielle C. ,

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

hrp0094p2-218 | Fat, metabolism and obesity | ESPE2021

Impact of overweight and obesity in pediatrics. Metabolic syndrome and its components

San Martin Amaya , Vilella Leyre , Garcia Casales Zurine , Calvo Ariadne , Rocha C , Sarasua Miranda Ainhoa , Diez-Lopez Ignacio ,

The current lifestyle, with a diet increasingly removed from the Mediterranean diet, together with the habitual sedentary lifestyle, is associated with many of the so-called non-communicable diseases, such as the metabolic syndrome. Every day these pathologies are more frequent in pediatrics, so this study has tried to establish the prevalence of metabolic syndrome and its components in overweight and obese children and assess its impact. METHODS A descriptive study has been c...

hrp0097rfc7.5 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Sex differences in endocrine mechanisms during early human fetal brain development

Buonocore Federica , Del Valle Ignacio , P. Suntharalingham Jenifer , Moreno Nadjeda , Developmental Biology Resource Human , C. Achermann John

Introduction: The influence of sex chromosomes and sex hormones on early human brain development is still poorly understood. Expression of Y chromosome genes may influence aspects of brain maturation in the 46,XY fetus, but the contribution of different Y genes is unknown. Furthermore, a marked increase in testicular testosterone biosynthesis/release from the testis occurs at around 8 weeks post conception (wpc) in the 46,XY fetus, but it is unclear whether te...