hrp0097p2-113 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

The complexity of Hyperinsulinism in newborns

Clemente Marisa , Crawley Louise , Weerasinghe Kamal

Background: Hyperinsulinism represents a group of clinically, genetically and morphologically heterogeneous disorders characterised by β-cell dysfunction in glucose homeostasis leading to excessive insulin secretion with profound and recurrent hypoglycaemia. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. Mutations in at least 14 genes have been reported to cause congenital hyperinsulinism. In nearly half of the cases, cause rema...

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...

hrp0092p1-314 | Diabetes and Insulin (2) | ESPE2019

Comparison Between Patients and Families who Routinely Download Data and Those who do Not Download Data at Home in The Management of Type 1 Diabetes

Ng Sze May , Sultana Perveen , Clemente Marisa , Apperley Louise

Background: In type 1 diabetes (T1D), optimal glycaemic control requires intensive self-management to reduce the risk of complications. While routine downloading and review of blood glucose data is part of clinical practice of healthcare providers in an outpatient setting, patients and families are also educated, advised and encouraged to regularly download and review blood glucose data at home in order to make adjustments to insulin dosing for carbohydrate in...

hrp0086p1-p39 | Adrenal P1 | ESPE2016

Chronic Adrenal Insufficiency Due to a Mutation of Nicotinamide Nucleotide Transhydrogenase 1 (NNT1): Case Report

Lefevre Christine , Derquenne Helene , Ister Marielle , Weill Jacques , Gueorguieva Iva , Stuckens Chantal , Cartigny Maryse

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

hrp0086p1-p201 | Diabetes P1 | ESPE2016

Non-Surgical Treatment of Diazoxide-Resistant of Early Diffuse Hyperinsulinism Using Long-Acting Octreotide, A Somaatostatin Analog: Follow-Up of Six Cases

Mention Karine , El Habbas Maya , Sechter Claire , Cartigny Maryse , Dobbelaere Dries

Background: Early diffuse hyperinsulinism represents a life- and brain-threatening condition. Besides enteral or parenteral additional supply, diazoxide represents the first line treatment. For diazoxide-resistant (DREDHI) patients, ablative surgery exposes to severe local complications, exocrine pancreas insufficiency and diabetes or residual hypoglycaemia.Objective and hypotheses: To evaluate the pros and cons of non-surgical treatment of DREDHI.<p...

hrp0086lbp8 | (1) | ESPE2016

Impact of Weight Loss after Bariatric Surgery on Gonadic Function in Severely Obese Female Adolescents

Gottrand Madeleine , Aubry Estelle , Aumar Aurelien , Caiazzo Robert , Cartigny Maryse , Pigeyre Marie , Pattou Francois , Gueorguieva Iva

Background and objectives: To study short-term effects of consequent weight loss on ovarian function and its correlation with morphometric and metabolic changes at 1 and 2 years after a laparoscopic adjustable gastric banding (LAGB) placement in severely obese adolescents.Subjects and methods: Our retrospective and observational study was conducted between July 2015 and January 2016 in a single center. Menstruations, anthropology and biological data were...

hrp0084p2-321 | DSD | ESPE2015

Familial Mutation of NR5A1/SF-1 Gene Associated with DSD and Spleen Agenesis: A New Syndrome?

Philibert Pascal , Poulat Francis , Audran Francoise , Cartigny Maryse , Paris Francoise , Sultan Charles , Manouvrier-Hanu Sylvie

Background: A recent report (JCI, 2014) described a new homozygous NR5A1/SF-1 mutation in a patient with XY DSD and spleen agenesis. To date, no other data have confirmed this association, raising the hypothesis of fortuity.Case presentation and method: We had the opportunity to study an adolescent girl referred for virilisation during puberty. She presented voice deepening and clitoral hypertrophy. Biological investigations showed high plasma testostero...

hrp0084p2-564 | Thyroid | ESPE2015

Are Children with Congenital Primary Hypothyroidism Overtreated?

Sechter Claire , Vasseur Francis , Cartigny-Maciejewski Maryse , Gueorguieva Iva , Stuckens Chantal , Weill Jacques

Background: Treatment of congenital primary hypothyroidism (CPHT) fluctuates between two opposite risks for the neuro-cognitive development in a critical window during the neonatal period, under- and over-treatment.Objective: To investigate the relevance of current international recommendations of 10–15 μg/kg per day for L-thyroxine (lT4) doses in CPHT.Method: fT4 and TSH were measured...

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 ...