hrp0084p2-500 | Perinatal | ESPE2015

Birth Incidence of Prader-Willi Syndrome in France

Bar Celine , Diene Gwenaelle , Molinas Catherine , Casper Charlotte , Tauber Maithe

Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder characterised in neonates by hypotonia and feeding problems. French birth incidence has never been reported.Objective and hypotheses: To evaluate incidence of PWS at birth in France.Method: Identification of patients with a molecular diagnosis of PWS born between January 1st, 2013 and December 31st, 2013 was obtained by combining va...

hrp0089p1-p190 | Multisystem Endocrine Disorders P1 | ESPE2018

Overview of Leading Causes of Death among French Patients with Prader-Willi Syndrome, 2004–2014

Liz Pacoricona Alfaro Dibia , Lemoine Perrine , Molinas Catherine , Diene Gwenaelle , Arnaud Catherine , Tauber Maithe

Introduction: Prader-Willi Syndrome (PWS) is a complex neurodevelopmental genetic disease comprising multiples cognitive, behavioural and endocrine abnormalities. This rare syndrome is one of the most common known reasons of syndromic obesity, a major cause of morbimortality among this population. In the last 20 years, substantial improvements have been made regarding the diagnosis, treatment and management of patients with PWS. Along those progresses, national policies were d...

hrp0084p3-1101 | Pituitary | ESPE2015

Baseline Characteristics, GH Response, and Long term Evolution in 67 Patients with Pituitary Stalk Interruption According to the Initial Presentation

Bar Celine , Zadro Charline , Diene Gwenaelle , Oliver Isabelle , Pienkowski Catherine , Jouret Beatrice , Audrey Cartault , Sevely Annick , Tauber Maithe , Edouard Thomas

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...

hrp0086fc13.5 | Management of Obesity | ESPE2016

Effects of AZP-531, a First-in-Class Unacylated Ghrelin Analog, on Food-Related Behaviour in Prader-Willi Patients: A Multi-Center, Randomized, Placebo-Controlled Study

Allas Soraya , Caixas Assumpta , Poitou Christine , Coupaye Muriel , Thuilleaux Denise , Lorenzini Francoise , Diene Gwenaelle , Crino Antonino , Illouz Frederic , Grugni Graziano , Delale Thomas , Abribat Thierry , Tauber Maithe

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hyperphagia and abnormal behaviours towards food for both of which no approved treatment is available. Elevated plasma acylated ghrelin (AG) documented at all ages in PWS suggest that the ghrelin system may contribute to the pathophysiology of hyperphagia. Administration of unacylated ghrelin and 8-amino acid analog AZP-531 prevents AG-induced food consumption in animals and improves glucose co...

hrp0082p1-d3-125 | Fat Metabolism & Obesity (2) | ESPE2014

Impairment of Adipose Tissue in Prader–Willi Syndrome Rescued by GH Treatment

Cadoudal Thomas , Diene Gwenaelle , Sengenes Coralie , Molinas Catherine , Desneulin Flavie , Eddiry Sanaa , Conte Auriol Francoise , Daviaud Daniele , Bouloumie Anne , Pierre Salles Jean , Valet Philippe , Tauber Maithe

Background: Prader–Willi syndrome (PWS) results from abnormalities in the genomic imprinting process leading to hypothalamic dysfunction with an alteration of GH secretion. PWS is associated with early morbid obesity and short stature which can be efficiently improved with GH treatment.Objective and hypotheses: Our aims were to highlight adipose tissue structural and functional impairments in young children with PWS and to study the effect of GH tre...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

hrp0082p1-d3-128 | Fat Metabolism & Obesity (2) | ESPE2014

Acylated and Unacylated Ghrelin Levels in Children and Young Adults with Prader–Willi Syndrome

Kuppens Renske , Diene Gwenaelle , Bakker Nienke , Molinas Catherine , Faye S , Nicolino Marc , Bernoux Delphine , Delhanty Patric , Jan van der Lelij Aart , Allas Soraya , Julien Michiel , Delale Thomas , Tauber Maithe , Hokken-Koelega Anita

Background: Prader–Willi syndrome (PWS) is characterized by a switch in early childhood from failure to thrive to excessive weight gain and hyperphagia with impaired satiety. The underlying mechanism for this switch may involve hyperghrelinemia, but only poor data exists regarding levels of acylated ghrelin (AG), unacylated ghrelin (UAG), and the AG/UAG ratio in PWS.Objective and hypotheses: To investigate plasma levels of AG and UAG in PWS, compare...

hrp0095t10 | Section | ESPE2022

Aromatase Inhibitor (anastrazole) vs placebo delays bone age maturation in prepubertal children with Silver Russell or Prader-Willi Syndrome and pathological adrenarche

Dufourg Marie-Noëlle , Diene Gwenaelle , Cachanado Marine , Vu-Hong Thuy-Ai , Berard Laurence , Rousseau Alexendra , Soussi Nora , Pinto Graziella , Rouleau Stéphanie , Bernoux Delphine , Chalard François , Ducou Le Pointe Hubert , Lamaziere Antonin , Tauber Maite , Netchine Irène

Background: Silver Russell syndrome (SRS) is a rare imprinting disorder with prenatal and postnatal growth retardation and feeding difficulties. The main molecular causes are loss of methylation of the 11p15.5 imprinting control region (H19/IGF2) and maternal uniparental disomy of chromosome 7. Prader-Willi syndrome (PWS) is a complex neurodevelopmental imprinting disorder with neonatal muscular hypotonia, failure to thrive to insatiable appetite, sho...