hrp0086p2-p411 | Gonads & DSD P2 | ESPE2016

Phenotypic and Hormonal Variability in 46,XY Subjects with SF-1 Mutations

Dillies Natacha , Brasseur Aurelie , Rouleau Stephanie , Metz Chantal , Naud-Saudreau Catherine , Morel Yves , Coutant Regis

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

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...

hrp0086p1-p546 | Perinatal Endocrinology P1 | ESPE2016

Higher Risk of Low Birth Weight and Multiple Nutritional Deficiencies in Neonates from Mothers after Gastric Bypass: A Case Control Study

Gerard Maxime , Gascoin Geraldine , Salle Agnes , Frein Dorothee , Topart Philippe , Becouarn Guillaume , Schmitt Francoise , Briet Claire , Rouleau Stephanie , Sentilhes Loic , Coutant Regis

Background: Maternal bariatric surgery is associated with increased risk of small-for-gestational-age infants. Risk of nutritional deficiencies in neonates of mothers with prior gastric bypass (GBP) is unclear.Methods: This study compared the clinical and cord blood biological characteristics of 56 newborns of GBP mothers and 56 newborns of healthy mothers, in the Obstetrics Department of Angers University Hospital between 01/03/2008 and 31/10/2012. Afte...

hrp0097p1-509 | Growth and Syndromes | ESPE2023

Significant height response to growth hormone treatment in subjects with Wiedemann Steinert syndrome.

Le Potier Emma , Donzeau Aurélie , Rouleau Stephanie , Bouhours-Nouet Natacha , Levaillant Lucie , Peborde Marie , Poisson Audrey , Alcina Mailys , Coutant Regis

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

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...