hrp0095p2-264 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

StAR gene mutation : description of puberty development and genital life from 6 patients 46,XX with classic Congenital Lipoid Adrenal Hyperplasia.

Jardin-Millet Isabelle , Amouroux Cyril , Dufourg Marie-Noelle , Lambert Anne-Sophie , Bouvattier Claire , Parada-Bonte Fabienne , Reynaud Rachel , Demeinex Estelle , Courbiere Blandine , Albarel FrÉDÉRique , Netchine IrÈNe , Houang Muriel

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...