hrp0097p2-283 | Late Breaking | ESPE2023

Evaluation of body composition in Brazilian children and adolescents with X-linked hypophosphatemic rickets

de Paula Colares Neto Guido , Maria Rodrigues Pereira Rosa , Takayama Liliam , Ferreira de Assis Funari Mariana , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , Matsunaga Martin Regina

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

hrp0098p1-134 | Fat, Metabolism and Obesity 2 | ESPE2024

The prevention of childhood obesity is a priority: preliminary results of the "EpPOI: Education to Prevent Childhood Obesity" project

Anna Morabito Letteria , Porri Debora , La Rosa Elisa , Corica Domenico , Pepe Giorgia , Francesca Messina Maria , Valenzise Mariella , Aversa Tommaso , Wasniewska Malgorzata

Introduction: Rapidly rising rates of childhood obesity (CO) are a current problem, and European and national data confirm the concern. CO comorbidities occur early and tend to persist into adulthood, negatively affecting long-term health. There is an urgent need to implement CO prevention programs, starting in the early years of life. In Southern Italy, an innovative health project, “EpPOI: Educate to Prevent Childhood Obesity,” has been establish...

hrp0098p1-244 | Fetal and Multisystem Endocrinology | ESPE2024

Tear proteomics in children and adolescents with congenital hyperinsulinism

Nikolaou Michaela , Aggelopoυlou ⃰ Eleni , Kitani Rosa-Anna , Vasilakis Ioannis-Anargyros , Zoidakis Jerome , Samiotaki Martina , Kanaka-Gantenbein* Christina , Nicolas C. Nicolaides*

Background/Aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycaemia. Aim of this study is to investigate the proteomic profile in tear samples in children and adolescents with congenital hyperinsulinism who are treated and followed up at our Division. The tears’ proteomic profile will be correlated with the clinical presentation and laboratory data of the patie...

hrp0098p1-211 | Adrenals and HPA Axis 3 | ESPE2024

Non tumoral ACTH-Independent Cushing Syndrome in Pediatric Patients: A Retrospective Observational Cohort Study

Hassan Myriam , Samara-Boustani Dinane , Besançon Alix , Rothenbuhler Anya , Storey Caroline , Pinto Graziella , Stoupa Athanasia , Nicolino Marc , Gonzalez-Briceno Laura , Nguyen Quoc Adrien , Vermillac Gaelle , Rovani Sibylle , Flechtner Isabelle , Thalassinos Caroline , Dassa Yamina , Beatriz Arrom Branas Maria , Viaud Magali , Beltrand Jacques , Ribault Virginie , Martinerie Laetitia , Linglart Agnès , Bertherat Jerôme , Blanc Thomas , Polak Michel , Kariyawasam Dulanjalee

Purpose: ACTH-independent bilateral adrenal hyperplasia is a rare cause of pediatric Cushing's syndrome (CS). Our objective was to describe the features of pediatric ACTH-independent CS and to compare groups defined by etiology.Methods: We conducted a retrospective observational study of patients aged 0–18 years at management in 1992–2022 for ACTH-independent CS in any of three Paris university pediatric...

hrp0082p1-d2-5 | Adrenals &amp; HP Axis | ESPE2014

Carbohydrate Metabolism in Children and Adolescents with Classical Congenital Adrenal Hyperplasia due to 21-Hydoxylase Deficiency

Dorr Helmuth G , Pichl Carolin , Marx Michaela , Herzog Nadine , Klaffenbach Daniela , Volkl Thomas

Background: Reports on obesity, high blood pressure and reduced insulin sensitivity in children with classical congenital adrenal hyperplasia (CAH) indicate an increased cardiovascular risk.Objective and Hypotheses: To evaluate potential mechanisms, we analysed various parameters of the carbohydrate metabolism in children and adolescents with CAH.Method: Out of 86 patients with classical CAH, n=41 (21 m, 20 f; ages: 6.9&#1...

hrp0082p1-d2-151 | Growth (1) | ESPE2014

Sequential Measurements of IGFI Serum Concentrations in Patients With Severe Primary IGFI Deficiency (SPIGFD) and Growth Failure Treated With Recombinant IGFI (Increlex®)

Bettendorf Markus , Kapelari Klaus , Kneppo Carolin , Muller Hermann L , Schnabel Dirk , Wolfle Joachim

Introduction: Increlex® was approved as an orphan drug for treatment of growth failure in children and adolescents with SPIGFD in 2007 with relatively little data available. Therefore sequential measurements of serum IGFI, glucose, insulin and potassium were performed in SPIGFD patients treated with Increlex® to evaluate their significance in safety and efficacy.Design: Blood samples were taken after meals before and 30, 6...

hrp0082p2-d2-276 | Adrenals &amp; HP Axis (1) | ESPE2014

Waist-to-Height Ratio, Waist-to-Hip Ratio, Waist Circumference, and BMI in Children and Adolescents with Classical Congenital Adrenal Hyperplasia Due to 21-Hydoxylase Deficiency (CAH)

Dorr Helmuth G. , Marx Michaela , Herzog Nadine , Gassmann Katja , Pichl Carolin , Volkl Thomas

Background: It has been reported that children with congenital adrenal hyperplasia (CAH) have higher BMI, increased body fat and greater waist-to-hip ratio (WHR) than control children.Objective and hypotheses: Recently it was speculated that the screening potential of waist-to-height ratio (WHtR) and waist circumference (WC) for cardio-metabolic risk in adults is higher than WHR and BMI.Method: To review this hypothesis, we studied...

hrp0095p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Phenotype-genotype characteristics of SRD5A2 with variation in gender choice among affected individuals: A single centre experience

Kaninde Abhidhamma , Baranowski Elizabeth , Igbowke Rebecca , McCarthy Liam , Chandran Harish , Vandermerwe Elmarie , Fulton Piers , Godber Caroline , Smart Helen , Curtis Joanne , Cole Trevor , Gleeson Helena , Latthe Pallavi , Kirk Jeremy , Idkowiak Jan , Mohamed Zainaba

Background: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...

hrp0092p1-80 | GH and IGFs | ESPE2019

Clinical Characteristics, Puberty Pattern and Adult or Near-adult-height Data in a Group of Patients with Growth Failure due to Severe Primary IGF-1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Lorraud Christine , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Brioude Frédéric , Netchine Irène , Amselem Serge , Legendre Marie , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...

hrp0089p2-p207 | GH &amp; IGFs P2 | ESPE2018

Clinical and Preliminary Molecular Description of a Cohort of Patients with Growth Retardation due to Severe Primary IGF1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Viaud Magali , Flechtner Isabelle , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Briceno Laura Gabriela Gonzalez , Beltrand Jacques , Netchine Irene , Brioude Frederic , Legendre Marie , Amselem Serge , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...