hrp0086p2-p386 | Gonads & DSD P2 | ESPE2016

High Prevalence of SGA in Patients with Disorders of Sexual Development, Especially Idiopathic 46,XY DSD

Ladjouze Asmahane , Taleb Ourida , Kedji Lila , Maoudj Abdeljalil , Berkouk Karima , Bensmina Manoubia , Aboura Rawda , Ouarezki Yasmine , Philibert Pascal , Anane Tahar , Sultan Charles , Laraba Abdenour

Background: Disorders of sex development (DSD) are a group of rare conditions characterized by variable discordance between chromosomal, gonadal and phenotypic sex. An association between smallness-for-gestational age (SGA) and DSD is already recognised, but few studies have investigated this in detail.Aim of study: To evaluate the prevalence of SGA, among patients with DSD and to establish a correlation with the different types and causes of DSD.<p ...

hrp0086p2-p401 | Gonads &amp; DSD P2 | ESPE2016

Aetiology of 46,XY DSD in Algeria; Putative Modifier Role of pV89L Polymorphism in the SRD5A2 Gene in Androgen Receptor Mutation-Negative Subjects

Ladjouze Asmahane , Philibert Pascal , Taleb Ourida , Kedji Lila , Maoudj Abdeljalil , Berkouk Karima , Bouhafs Nadjet , Dahmane Nabila , Melzi Souhila , Anane Tahar , Sultan Charles , Laraba Abdenour

Background: 46,XY DSD is a heterogeneous group of pathologies characterized by a wide spectrum of phenotypes and aetiologies. While advances in molecular genetics have permitted discovery of numerous genes implicated in testicular development, the diagnosis still remains uncertain for most patients with 46,XY DSD.Objective: To identify the aetiologies of 46,XY DSD in Algerian patients.Methods: We conducted a multicentre prospective...