hrp0095p1-204 | Adrenals and HPA Axis | ESPE2022

Reduced cognitive function in children with classical 21-hydroxylase deficient congenital adrenal hyperplasia (21OHD-CAH).

Ladjouze Asmahane , Hamiche Nalia , Boulesnane Kamelia , Aboura Rawda , Bouhafs Nadjet , melzi souhila , Bouzerar Zair , Donaldson Malcolm

Background: In the absence of a national screening program for congenital adrenal hyperplasia (CAH), children are often diagnosed late, when unwell with salt-wasting crisis or hypoglycemic symptoms. In 21-hydroxylase deficient CAH (21OHD-CAH), girls usually present with a disorder of sex development (DSD) and are thus diagnosed earlier than boys who present with salt-wasting.Aim: To investigate the global intelligence of...

hrp0086p2-p401 | Gonads & 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...

hrp0097p1-406 | Adrenals and HPA Axis | ESPE2023

Congenital adrenal hyperplasia due to 11 β-hydroxylase deficiency: Clinical, Biochemical and Genetic characteristics

Ladjouze Asmahane , Mohammedi kahina , Demdoum Mohamed , Boulesnane Kamelia , Aboura Rawda , Melzi Souhila , Bouhafs Nadjet , Donaldson Malcolm , Janot Clément , Mallet Delphine , Bouzerar Zair , Roucher-Boulez Florence

Background: Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 (gene encoding 11β-hydroxylase), is a rare autosomal recessive disorder due to an impairment of the last steroidogenesis step. Consequences are a decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors responsible of hyperandrogenism and hypertension. It is the second most frequent cause of CAH after 21-Hydroxylase de...