Endocrine Abstracts

11β-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasia (CAH), corresponding to approximately 5% of cases., and caused by inactivating mutations in the CYP11B1 gene. We aimed to describe four new cases from two different families with a clinical diagnosis of 11β-hydroxylase deficiency. Family 1: Two siblings born from consanguineous parents. A 31-year-old (yo) woman presented at 5 yo with genital ambiguity (Prader II), ...