Tag: Hyperandrogenemia
Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
Christos Shammas, Stefania Byrou, Marie M. Phelan, Meropi Toumba, Charilaos Stylianou, Nicos Skordis, Vassos Neocleous, Leonidas A. Phylactou
OBJECTIVE: Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In the present study, the second most common cause for non-classic CAH (NC-CAH), 11β-hydroxylase deficiency due to mutations in the CYP11B1 gene, is investigated …