hrp0098ha1 | Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets | ESPE2024

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets

Janot Clément , Lucas Cécily , Mallet Delphine , Demdoum Mohammed , Martinez Antoine , Plotton Ingrid , Reynaud Rachel , Rigaud Chantal , Silve Caroline , Val Pierre , Roucher-Boulez Florence

Backgrounds and Aims: Primary adrenal insufficiency (PAI) is due to impaired production of steroid hormones by the adrenal cortex. Among PAI of genetic origin, most cases have congenital adrenal hyperplasia (CAH), due to 21-hydroxylase or less frequently 11β-hydroxylase deficiency (11OHD), but 5% have no clear genetic support. Adrenal steroidogenesis pathway comprises three P450 cytochrome-based mitochondrial oxidative steps (CYP11A1, CYP11B1 and CYP11B2)...

hrp0097fc5.6 | Diabetes and insulin 1 | ESPE2023

Post-Hypoglycemic Hyperglycemia Are Highly Relevant Markers For Stratification Of Glycemic Variability and Remission Status Of Pediatric Patients With New-Onset Type 1 Diabetes.

Harvengt Antoine , Pollé Olivier , Lysy Philippe

Aims: Recently, our team introduced the concept of post-hypoglycemic hyperglycemia (PHH) in the context that recovery of hypoglycemia impacts cardiovascular risk. GLUREDIA study aimed to evaluate whether PHH parameters correlated with glycemic homeostasis during the first year after type 1 diabetes onset and helped to distinguish pediatric patients undergoing partial remission or not.Methods: In the GLUREDIA study, longi...

hrp0092lb-8 | Late Breaking Posters | ESPE2019

Detection of Cardiomyopathy in Egyptian Children and Adolescents with Longstanding Obesity Using Cardiac Marker NT-pro PNB and Speckled Tracking Echocardiography

Hafez Mona , Musa Noha , Fakhry Antoine , ELMougy Fatma , ELShennawy Hala

Introduction: Obesity is considered a major risk factor for developing cardiovascular morbidity and mortality. Obesity affects the structure and function of the heart mainly by causing increased blood volume, elevated cardiac output, left ventricular (LV) hypertrophy, and LV diastolic dysfunction. All of which can play a role in causing heart failure.Objective: This cross-sectional study aimed to evaluate the effect of l...

hrp0086p2-p399 | Gonads & DSD P2 | ESPE2016

Diagnosis of PCOS in Adolescents Using MRI

Maxime Fondin , Antoine Rachas , Van Huynh , Abella Stephanie Franchi , Jean-Paul Teglas , Lise Duranteau , Catherine Adamsbaum

Background: Polycystic ovarian syndrome (PCOS) diagnosis includes ovarian morphology using transvaginal ultrasound (US). However transvaginal US cannot be used in virginal girls and transabdominal US is not optimal particularly in obese patients.Objective and hypotheses: To evaluate the validity and reproducibility of ovarian morphology measures using MRI for the diagnosis of PCOS in adolescents.Method: This case-control study (200...

hrp0094p1-191 | Thyroid B | ESPE2021

The Impact of Hospital Surgical Volume on Healthcare Utilisation Outcomes after Paediatric Thyroidectomy

Chesover Alexander , Eskander Antoine , Griffiths Rebecca , Pasternak Jesse , Pole Jason , Wolter Nikolaus , Wasserman Jonathan ,

Background: A positive relationship between an individual surgeon’s operative volume and clinical outcomes after paediatric and adult thyroidectomy is well-established. The impact of a hospital’s paediatric operative volume on surgical outcomes and healthcare utilisation, however, are infrequently reported. We investigated associations between hospital volume and healthcare utilisation outcomes following paediatric thyroidectomy in Canada’s larg...

hrp0089p3-p150 | Fat, Metabolism and Obesity P3 | ESPE2018

Mother’s Obesity and High Child’s Waist Circumference are Predictive Factors of Severe Child’s Obesity: An Observational Study in French Guiana

Falucar Njuieyon , Emma Cuadro-Alvarez , Elise Martin , Noemie Lachaume , Yajaira Mrsic , Fanny Henaff , Chimene Maniassom , Antoine Defo , Narcisse Elenga

Background: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana.Methods: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient’s non opposition.Results: Our group classifications revealed that 36 of 150 (24%) participants were classified as being ...

hrp0082p3-d3-923 | Pituitary (1) | ESPE2014

Think Histiocytosis X Facing Insipidus Diabetes with Thickened Pituitary Stalk

Lichtenberger-Geslin Lydia , Gourmel Antoine , Sainte-Rose Christian , Trifunovic-Bony Helene , Braun Karine , Boudailliez Bernard , Devoldere Catherine

Background: Insipidus diabetes is a rare disease in pediatric endocrinology.Objective and hypotheses: Facing a thickened pituitary stalk on MRI pituitary, the main diagnosis to mention are: dysgerminoma, histiocytosis, sarcoidosis, and autoimmune hypophysitis. Histiocytosis is a rare and often underdiagnosed cause.Method: We report the case of a teenage girl who presented polyuria–polydipsia syndrome at the age of 14 years con...

hrp0082s9.2 | Novel Insights into Pituitary Development and Function | ESPE2014

Sox2+ve cells in the adult murine pituitary are stem cells with tumour-inducing potential

Martinez-Barbera Juan Pedro , Andoniadou Cynthia

Background: Several lines of evidence suggest that the adult pituitary contains a population of tissue-specific stem cells capable of differentiating into hormone-producing cells. Previously, we have shown that Sox2+ve cells are able to self-renew and differentiate in vitro, suggesting that this population of undifferentiated cells may contain stem cells in vivo. When targeted with oncogenic mutations adult stem cells can become cancer stem cells, able to self-renew and give r...

hrp0098p3-326 | Late Breaking | ESPE2024

Effect of IM Depot Estradiol on Pubertal Progression and Uterine Development in Turner Girls

Anwar Ghada , Saber Rania , Maher Ghada , Mohammed Walaa , Antoune Marise

Introduction: Estrogen treatment is crucial for girls with TS to induce puberty. To mimic normal physical development, initiation of treatment should begin at 11–12 years of age if gonadotropins are elevated, or AMH is low. Different estrogen preparations can be used for this purpose, however only IM depot estradiol is available in Egypt.Aim: To evaluate progression of puberty and uterine development using IM depot...

hrp0095fc6.5 | Sex Development and Gonads | ESPE2022

Phenotypes in a large international cohort of individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Martinez de Lapiscina Idoia , Tack Lloyd , Cools Martine , E Flück Christa , study group SF1next

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...