hrp0082p2-d2-282 | Adrenals & HP Axis (1) | ESPE2014

Steroid 11β-Hydroxylase Deficiency Due to CYP11B1 Mutations in Females with Hyperandrogenemia

Shammas Christos , Byrou Stefania , Phedonos Alexia AP , Nicolaou Stella , Toumba Meropi , Skordis Nicos , Neocleous Vassos , Phylactou Leonidas A

Background: More than >90% of cases of congenital adrenal hyperplasia (CAH) are caused by 21-hydroxylase deficiency, steroid 11β-hydroxylase deficiency accounts for 5–8% of cases.Objective and hypotheses: To seek evidence on the prevalence of CYP11B1 mutations in prepubertal girls, adolescents and adult females with clinical signs of hyperandrogenemia.Method: The study included 31 girls with premature adrenar...