hrp0082p2-d1-269 | Adrenals & HP Axis | ESPE2014
, Simon Anke
, Schulze Egbert
, Grulich-Henn Jurgen
, Bettendorf Markus
Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...