hrp0082p2-d3-554 | Puberty and Neuroendocrinology (2) | ESPE2014

Predominantly Matrilineal Inheritance of Familial Precocious Puberty Suggests an Underlying Imprint Anomaly

Durand Adelaide , Brauner Raja , Bashamboo Anu , McElreavey Ken

Background: The age of onset of puberty is known to be influenced by poorly understood genetic and environmental factors. Familial forms of precocious puberty suggest the involvement of autosomal genetic factors.Objective and hypotheses: We evaluated the mode of inheritance of precocious puberty in a large series of familial cases of both central precocious puberty (CPP) and advanced puberty.Method: A retrospective, single-centre s...

hrp0092fc10.4 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Loss-Of-Function and Missense Mutations in MYRF are a Novel Cause of Autosomal Dominant 46,XY Leydig Cell Hypoplasia and 46,XY Gonadal Dysgenesis

McElreavey Ken , Globa Evgenia , Bertalan Rita , Bignon-Topalovic Joelle , Brauner Raja , Bashamboo Anu

MYRF is known to regulate the myelination of the central nervous system and mice with a conditional deletion of MYRF in oligodendrocyte precursors has anomalies of motor skill. Recently, several loss-of-function and missense mutations in MYRF have been reported in association with syndromic forms of congenital heart disease (CHD) with elements of Scimitar syndrome and/or with congenital diaphragmatic hernia (CDH). In most 46,XY individuals a range of...

hrp0082p1-d3-92 | Sex Development | ESPE2014

Mutations Involving FIBULIN2 are a Novel Cause of 46,XY DSD

Bashamboo Anu , Palka Chiara , Mohn Angelika , Chiavaroli Valentina , Chiarelli Francesco , Brauner Raja , McElreavey Ken

Background: The genetic causes of disorders of sex development (DSD) are difficult to identify since these conditions are refractory to classic genetic approaches. In particular the underlying genetic mutations of most cases of 46,XY DSD is unknown.Objective and hypotheses: Using an exome sequencing approach we aimed to identify new genetic factors involved in 46,XY gonadal dysgenesis.Method: Exon enrichment was performed using Agi...

hrp0084p3-1027 | Growth | ESPE2015

Impact of Using WHO vs National Growth Charts on the Clinical Performance of a Decision Rule for Growth Monitoring

Scherdel Pauline , Matczak Soraya , Brauner Raja , Salaun Jean-Francois , Martin Chalumeau , Heude Barbara

Background: Since the publication of international growth charts by the World Health Organization (WHO) in 2006, the use of national growth charts for growth monitoring (GM) has been questioned.Objective and hypotheses: To evaluate the potential impact of using WHO vs. national growth charts on the performance of a clinical decision rule for detecting children with one of the target conditions of GM: GH deficiency (GHD).Method: In ...

hrp0084p3-1028 | Growth | ESPE2015

Comparison of the Performance of Algorithms Proposed to Standardize Growth Monitoring

Scherdel Pauline , Matczak Soraya , Brauner Raja , Salaun Jean-Francois , Heude Barbara , Chalumeau Martin

Background: In industrialised countries, the main goal of growth monitoring (GM) of apparently healthy children is the early detection of severe underlying conditions. However, empirical evidence suggests globally poor performances of GM, with important diagnosis delays for priority target conditions and many unnecessary referrals for diagnostic work-up for disease-free children.Objective and hypotheses: To evaluate and to compare the performance for ear...

hrp0086p1-p6 | Adrenal P1 | ESPE2016

Novel CYP11A1 Mutations in 15 Patients (13 Families) with Variable Clinical Presentations

Goursaud Claire , Roucher-Boulez Florence , Mallet-Motak Delphine , Brauner Raja , Gay Claire Lise , Garcia Ana Mercedes , Lienhardt-Roussie Anne , Jennane Farida , Azar Maryam Razzaghy , Morel Yves

Background: The side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associate with primary adrenal insufficiency (PAI) and, in 46,XY patients, Disorders of Sex Development (DSD). A total of 35 patients (27 families) are reported including 15 intermediate forms with delayed onset of PAI, variable degrees of DSD or normal male phenotype.<p class="abstext"...

hrp0095p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

X-Linked Central Precocious Puberty Associated with MECP2 defects

Canton Ana , Tinano Flavia , Guasti Leonardo , Montenegro Luciana , Ryan Fiona , Shears Deborah , Edna Melo Maria , Gomes Larissa , Piana Mariana , Brauner Raja , Espino Rafael , Escribano-Muñoz Arancha , Paganoni Alyssa , Korbonits Marta , Eduardo Seraphim Carlos , Faria Aline , Costa Silvia , Cristina Krepischi Ana , Jorge Alexander , David Alessia , Argente Jesús , Mendonca Berenice , Brito Vinicius , Howard Sasha , Claudia Latronico Ana

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...

hrp0092fc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome

McElreavey Ken , Jorgensen Anne , Eozenou Caroline , Merel Tiphanie , Bignon-Topalovic Joelle , Tan Daisy , Houzelstein Denis , Buonocore Federica , Warr Nigel , Kay Raissa , Peycelon Mathieu , Siffroi Jean-Pierre , Mazen Inas , Achermann John , Shcherbak Yuliya , Leger Julienne , Sallai Agnes , Carel Jean-Claude , Martinerie Laetitia , Le Ru Romain , Conway Gerald , Mignot Brigitte , Van Maldergem Lionel , Bertalan Rita , Globa Evgenia , Brauner Raja , Jauch Ralf , Nef Serge , Greenfield Andy , Bashamboo Anu

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...