hrp0095fc10.1 | GH and IGFs | ESPE2022

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

Quoc Adrien Nguyen , Kévin Beccaria , BriceñO Laura GonzáLez , Graziella Pinto , Boustani Dinane Samara , Athanasia Stoupa , Jacques Beltrand , Alix Besançon , Caroline Thalassinos , Stéphanie Puget , Thomas Blauwblomme , Claire Alapetite , Stéphanie Bolle , François Doz , Jacques Grill , Christelle Dufour , Franck Bourdeaut , Samuel Abbou , Rousseau Léa Guerrini , Amaury Leruste , Séverine Brabant , Magali Viaud , Nathalie Boddaert , Michel Polak , Dulanjalee Kariyawasam

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

hrp0092p1-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

The Impact of Klinefelter Syndrome on Quality of Life – a Multicentre Study

Franik Sebastian , Fleischer Kathrin , Kortmann Barbara , Stikkelbroek Nike , D'Hauwers Kathleen , In't Hout Joanna , Bouvattier Claire , Slowikowska-Hilczer Jolanta , Grunenwald Solange , van de Grift Tim , Cartault Audrey , Richter-Unruh Annette , Reisch Nicole , Thyen Ute , Claahsen - van der Grinten Hedi

Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS and associate QOL with socioeconomic status, prevalence of somatic disease and mental illness, testosterone supplementation and age of diagnosis.<p class=...

hrp0097fc4.3 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Pathogenic variants in GHSR cause short stature and growth hormone neurosecretory dysfunction; results from a large case series

Punt Lauren , Kooijman Sander , van der Kaay Danielle , van Tellingen Vera , Bakker - van Waarde Willie , Boot Annemieke , van den Akker Erica , van Boekholt Anneke , van Duyvenvoorde Hermine , van Nieuwaal - Van Maren Nancy , Woltering Claire , Heijligers Malou , van der Heyden Josine , Bannink Ellen , Losekoot Monique , de Bruin Christiaan , Maarten Wit Jan , Joustra Sjoerd

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...

hrp0097p1-257 | Fat, Metabolism and Obesity | ESPE2023

Risk Factors for becoming adult with obesity in survivors of childhoodcancer

Delacourt Laurene , Allodji Rodrigue , Chappat Juliette , Haddy Nadia , El-Fayech Chiraz , Demoor-Goldschmidt Charlotte , Journy Neige , Bolle Stephanie , Thomas-Teinturier Cécile , Zidane Monia , Rubino Carole , Veres Cristina , Vu-Bezin Giao , Berchery Delphine , Pluchart Claire , Bondiau Pierre-Yves , Dumas Agnès , Bougas Nicolas , Grill Jacques , Dufour Christelle , Fresneau Brice , Pacquement Helene , Diallo Ibrahima , Doz François , De Vathaire Florent

Purpose: The aim of this study was to identify risk factors for adult obesity in childhood solid cancer or lymphoma survivors (CCS).Patients and Methods: The study included 3199 patients of the French Childhood Cancer Survivor Study Cohort (FCCS) with 303 obese patients who had returned self-questionnaire. Analyses were adjusted on social deprivation index and sex.Results: CCS bein...

hrp0092fc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome

McElreavey Ken , Jorgensen Anne , Eozenou Caroline , Merel Tiphanie , Bignon-Topalovic Joelle , Tan Daisy , Houzelstein Denis , Buonocore Federica , Warr Nigel , Kay Raissa , Peycelon Mathieu , Siffroi Jean-Pierre , Mazen Inas , Achermann John , Shcherbak Yuliya , Leger Julienne , Sallai Agnes , Carel Jean-Claude , Martinerie Laetitia , Le Ru Romain , Conway Gerald , Mignot Brigitte , Van Maldergem Lionel , Bertalan Rita , Globa Evgenia , Brauner Raja , Jauch Ralf , Nef Serge , Greenfield Andy , Bashamboo Anu

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...

hrp0092p1-345 | Fat, Metabolism and Obesity (2) | ESPE2019

ANGPTL-4 in Children and Adolescents: Relation to Gender, Puberty and Obesity

Barja-Fernández Silvia , Folgueira Cintia , Castelao Cecilia , Pena-León Verónica , González-Saenz Patricia , Vázquez-Cobela Rocío , Aguilera Concepción M , Gil-Campos Mercedes , Bueno Gloria , Gil Ángel , Moreno Luis , Ruiz-Piñon Manuel , García-Palacios María , Casanueva Felipe F , Dieguez Carlos , Nogueiras Rubén , Seoane Luisa M. , Leis Rosaura

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

hrp0095p1-458 | Diabetes and Insulin | ESPE2022

BMI in Bulgarian children and adolescents with type 1 diabetes mellitus – data of two national cross-sectional studies

Archinkova Margarita , Konstantinova Maia , Savova Radka , Iotova Violeta , Kaleva Narcis , Petrova Chaika , Popova Galia , Kundurdzhiev Todor , Witsch Michael , Slavcheva-Prodanova Olga

Pediatric overweight and obesity are also an issue in children and adolescents with type 1 diabetes (T1D). Body Mass Index (BMI) is an accurate and widely used clinical method for assessing childhood obesity.Objective: To analyze the BMI-standard deviation scores (SDS) in Bulgarian children and adolescents with T1D and its relationship with age, gender, type of insulin treatment, and HbAlc.Materials and Met...

hrp0097p2-295 | Late Breaking | ESPE2023

Metabolic and growth outcome of two-years growth hormone treatment in children born small for gestational age: a retrospective study

Ferrigno Rosario , Cristina Savanelli Maria , Cioffi Daniela , Pellino Valeria , Klain Antonella

Children born small for gestational age (SGA) not showing catch-up growth in the first two years of life may show decreased growth rate and adult height, as well as worse metabolic profile, compared to general population. In these patients, growth hormone (GH) treatment is recommended, showing positive effects on both growth rate and metabolic profile, with good tolerability. The aim of the current study was to evaluate the auxological and metabolic effects and the safety of G...

hrp0097p1-286 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Aetiology and Outcome of Hypoglycaemia in Young Children

Yean Chai Xin , Guftar Shaikh M. , D. McNeilly Jane

Background: Hypoglycaemia is one of the most common presenting complaints at paediatric emergency department. There are many distinct causes of hypoglycaemia, ranging from nutritional insufficiency, infectious origins, to metabolic disorders. A thorough investigation can help differentiate the cause of hypoglycaemia, with subsequent tailored management. All patients with hypoglycaemia should have a full clinical assessment and together with a hypoglycaemia scr...

hrp0089p1-p196 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Endocrine Follow-up of Children with a History of Brain Tumour: Data from Our Large Cohort at Necker University Hospital, Paris, 2010–2015

Briceno Laura Gabriela Gonzalez , Samara-Boustani Dinane , Beltrand Jacques , Grill Jacques , Puget Stephanie , Dufour Christelle , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Touraine Philippe , Valteau-Couant Dominique , Kariyawasam Dulanjalee , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Rocco Federico Di , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Brugieres Laurence , James Syril , Busiah Kanetee , Simon Albane , Bourdeaut Franck , Bolle Stephanie , Fresneau Brice , Michon Jean , Orbach Daniel , Guerrini-Rousseau Lea , Doz Francois , Polak Michel

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...