ESPE Abstracts

Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.Subjects and Methods: We underwent a prospective study of 26 patients ove...

Introduction: Leydig cell hypoplasia (LCH) or agenesis, is an autosomal recessive condition and a well-defined form of 46,XY disorder of sex development (DSD) resulting from inadequate foetal testicular Leydig cell differentiation.Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicityCase report: We studied a 15-ye...