hrp0086p1-p346 | Gonads & DSD P1 | ESPE2016

Using Public Databases, ‘Virtual Controls’ and Geolocalization to Search for Environmental Correlates of Hypospadias

Valleron Alain-Jacques , Esterle Laure , Mouriquand Pierre , Meurisse Sofia , Valtat Sophie , Urology Centers HYPOCRYPT Network , Bougneres Pierre

Background: Incidence of hypospadias varies considerably across countries, ranging from 4 to 43 cases per 10,000 births. Environmental factors might explain these differences. The classical approach is to use case-control studies to identify these factors. However, this approach suffers from the unavoidable arbitrariness of the definition of controls, and of recall bias.Objective and hypotheses: To identify environmental markers of the place of birth of ...

hrp0086p2-p385 | Gonads & DSD P2 | ESPE2016

A Familial form of DSD due to NR5A1 Mutation in a Father and His Son

Gay Claire-Lise , Gorduza Daniela , Brac de la Perriere Aude , Plotton Ingrid , Mouriquand Pierre , Nicolino Marc , Morel Yves

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

hrp0086p2-p422 | Gonads & DSD P2 | ESPE2016

Late Clinical Presentation, Biological Assessment and Management of PAIS in a Developing Country

Brindusa Gorduza Daniela , Tambo Mouafo Faustin , Gay Claire-Lise , Plotton Ingrid , Birraux Jacques , Dahoun Sophie , Morel Yves , Mouriquand Pierre , Le Coultre Claude , Mure Pierre-Yves

Background: Partial androgen insensitivity syndromes (PAIS) are rare 46,XY DSD (disorder of sex development).Objective and hypotheses: Three families with PAIS (six patients) are reported, focusing on their phenotype and treatment depending on sex of rearing. Biological investigations and surgical management are described.Method: Between 2009 and 2015 a consultation for uro-genital malformations in pediatric patients was set up in ...

hrp0086p2-p703 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

French National Healthcare Network for Rare Endocrine Diseases (FIRENDO): The First Year of Activity to Monitor Patients with Rare Endocrine Diseases

Givony Maria , Minime Fanny , Lopes Euma Fortes , Varillon Yvonne , Le Verger Delphine , Ghenim Sabine , Provost Marion , Rahabi-Layachi Haifa , Bouvattier Claire , Polak Michel , Brue Thierry , Nunes Marie-Laure , Delemer Brigitte , Netchine Irene , Mouriquand Pierre , Borson-Chazot Francoise , Bony-Trifunovic Helene , Rodien Patrice , Juliane Leger , Bertherat Jerome

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO ( includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...