M. Eladla

EP1808 - LBA_ECE_1094 - Familial 11β-hydroxylase deficiency associated with a CYP11B1 mutation: phenotypic variability across two generations, including a severe form with salt-wasting syndrome

11β-hydroxylase deficiency is an autosomal form of congenital adrenal hyperplasia, accounting for 5%-8% of cases. It results in impaired cortisol synthesis, leading to an accumulation of precursors that causes hyperandrogenism and, in some cases, hypertension. This study describes the clinical, biological, and pr...