hrp0092p1-296 | Adrenals and HPA Axis (2) | ESPE2019

Three Novel Mutations of the StAR Gene in Five Algerian Patients Presenting with Classical and Non-Classical Lipoid Adrenal Hyperplasia

Ladjouze Asmahane , Mallet Delphine , Demdoum Mohamed , Bouzerar Zair , Morel Yves , Roucher-Boulez Florence

Background: StAR deficiency is a rare cause of primary adrenal insufficiency (PAI), with fewer than 100 cases reported worldwide. The first patients to be described suffered from severe forms of lipoid adrenal hyperplasia leading to severe undervirilization in 46,XY foetuses. More recently, however, less severe forms, known as "non-classical" or "atypical lipoid adrenal hyperplasia", presenting with PAI with salt wasting (SW) syndrome and norma...

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...