hrp0089p2-p291 | Multisystem Endocrine Disorders P2 | ESPE2018

Hypoglycemia in Adolescence as the Presenting Sign of Familial MEN1

Justine Bailleul , Natacha Bouhours-Nouet , Valentine Suteau , Maryam Azgal , Marie-Neige Campas , Aurelie Donzeau , Regis Coutant

Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene. Penetrance increases with age. It combines mainly hyperparathyroidism, adenomas of the pancreas and pituitary gland. The prevalence is about 2/100 000. Diagnosis in children is rare except in the case of family screening. We report the diagnosis of a familial MEN1 whose index case was an adolescent girl investigated because of hypoglycae...

hrp0086p1-p557 | Perinatal Endocrinology P1 | ESPE2016

Mutations in MODY Genes: About Four Cases of Congenital Hyperinsulinism

Berthelon Karen , Rouleau Stephanie , Dupuis Clementine , Bouhours Natacha , Donzeau Aurelie , Cessans Christine , Bellanne Christine , Coutant Regis

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

hrp0086p2-p701 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

TPIT Mutation may be Involved in Multiple Pituitary Deficiencies

Degand Pauline , Rouleau Stephanie , Donzeau Aurelie , Bouhours Natacha , Saveanu Alexandru , Reynaud Rachel , COUTANT Regis

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

hrp0094p2-187 | Fat, metabolism and obesity | ESPE2021

Effect of Semaglutide on body weight in obese children with craniopharyngioma: a preliminary report

Jourdren Marie , Coutant Regis , Bouhours Nouet Natacha , Amsellem Jager Jessica , Donzeau Aurelie , Levaillant Lucie , Delion Mathieu ,

Background: Pituitary insufficiency and severe obesity are common sequelae of craniopharyngioma and its treatment. Once weekly glucagon-like Peptide 1 (GLP1) analog’s semaglutide has recently shown efficacy in adults with common obesity.Objective: We evaluated the efficacy and safety of Semaglutide, a once-weekly GLP-1 analog, in 6 children with craniopharyngioma and morbid obesity.Subjects an...

hrp0089p2-p390 | Thyroid P2 | ESPE2018

Multinodular Goiter in Childhood: Look for DICER1 Mutation

Suteau Valentine , Isabelle Souto , Natacha Bouhours-Nouet , Maryam Azgal , Justine Bailleul , Marie-Neige Campas , Aurelie Donzeau , Patrice Rodien , Regis Coutant

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

hrp0084p2-353 | Fat | ESPE2015

A New Mutation of PCSK1 Revealed by Neonatal Malabsorptive Diarrhoea, Panhypopituitarism, and Major Obesity

Bouhours-Nouet Natacha , Donzeau Aurelie , Decrequy Anne , Goideau Marion , Ziegler Alban , Colin Estelle , Bonneau Dominique , Coutant Regis

Background: Proprotein convertase subtilisin/kexin types 1 and 2 (PCSK1 and PCSK2) are expressed in neuroendocrine tissues where they cleave a subset of inactive prohormones into biologically active hormones, including pro-opiomelanocortin (POMC), proTRH, proinsulin, proglucagon, and proGnRH. Congenital deficiency of PCSK1 is a very rare syndrome causing malabsorptive diarrhea contrasting with severe early-onset obesity and hypopituitarism. We described here a new case of cong...

hrp0086p1-p569 | Perinatal Endocrinology P1 | ESPE2016

Maternal Nutritional Risk Factors Associated with Neonatal Hyperinsulinism

Louvigne Mathilde , Rouleau Stephanie , Bouhours-Nouet Natacha , Donzeau Aurelie , Caldagues Emmanuelle , Souto Isabelle , Montcho Yannis , Bouvagnet Audrey Migraine , Baud Olivier , Leger Juliane , Carel Jean-Claude , Gascoin Geraldine , Coutant Regis

Background: Neonatal hyperinsulinism is the most frequent cause of neonatal recurrent hypoglycaemia. The persistent form can be explained by mutations of genes involved in beta cell function, whereas the transient form can occur in case of prematurity, low birth weight, macrosomia, perinatal hypoxia, and maternal diabetes.Objective and hypotheses: As we observed an increase in the incidence of neonatal hyperinsulinism, we hypothesized that potential mate...

hrp0094p2-193 | Fat, metabolism and obesity | ESPE2021

Early decline in Sertoli cell function during puberty in overweight and obese boys: a cross-sectional study

Rerat Solene , Amsellem-Jager Jessica , L’hours Marie-Clemence , Bouhours-Nouet Natacha , Donzeau Aurelie , Rouleau Stephanie , Levaillant Lucie , Emeriau Fabienne , Moal Valerie , Boux de Casson Florence , Lahlou Najiba , Coutant Regis ,

Context: Alterations in semen characteristics and Sertoli and Leydig cell function have been described in obese male adults. Whether these alterations occur before adulthood has not been fully evaluated.Objective and Design: Cross sectional study from 2010 to 2018 describing gonadic function in overweight-obese (ow/ob) boys through childhood and adolescence.Setting: Monocentric study in the Pediatric Endocrinology ...

hrp0094p2-200 | Fat, metabolism and obesity | ESPE2021

Impact of weight loss on gonadic function in overweight and obese boys

Rerat Solene , Coutant Regis , Beaumesnil Marion , L’hours Marie-clemence , Bouhours-Nouet Natacha , Donzeau Aurelie , Rouleau Stephanie , Levaillant Lucie , Emeriau Fabienne , Moal Valerie , Boux de casson Florence , Amsellem-Jager Jessica ,

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...