hrp0098s9.1 | Novel advances in paediatric thyroid disease | ESPE2024

Genetics of congenital hypothyroidism: Modern concepts.

Polak Michel , Stoupa Athanasia , Kariyawasam Dulanjalee , Nguyen Quoc Adrien , Carre Aurore

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable cause of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamo-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). T...

hrp0097p1-5 | Adrenals and HPA Axis | ESPE2023

Glucose profiles of children with classical congenital adrenal hyperplasia: lesson from continuous glucose monitoring

Nguyen Quoc Adrien , Galderisi Alfonso , Kariyawasam Dulanjalee , Stoupa Athanasia , Pinto Graziella , Viaud Magali , Brabant Severine , Beltrand Jacques , Polak Michel , Samara-Boustani Dinane

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...

hrp0098p1-104 | Thyroid 1 | ESPE2024

Thyroid nodules in children and adolescents: 26 years of experience in a large single academic center

Gest-Laurent Maxime , Nguyen-Quoc Adrien , Lefevre Christine , Gonzalez-Briceno Laura , Thalassinos Caroline , Flechtner Isabelle , Arrom-Branas Maria-Beatriz , Pinto Graziella , Samara-Boustani Dinane , Kariyawasam Dulanjalee , Monpeyssen Hervé , Sarnacki Sabine , Couloigner Vincent , Polak Michel , Stoupa Athanasia

Introduction: Thyroid nodular disease in paediatric age has a lower prevalence but higher rate of malignancy compared to adults. The most frequent risk factors for thyroid cancer are young age, family history, underlying thyroid disease, previous malignancy, genetic predisposition and radiation exposure.Objectives: Describe the demographics, nodules’ etiology and malignancy characteristics and compare the diagnosti...

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...