Steroid 11β- hydroxylase deficiency congenital adrenal hyperplasia

Congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11β-hydroxylase deficiency in the zona fasciculata in the adrenal cortex, have been identified. The indicators of congenital adrenal hyperplasia caused by 11β-hydroxylase deficiency, include increased serum concentrations of desoxycorticosterone, 11 deoxycortisol and δ4-androstenedione, and suppressed plasma renin concentrations. The disorder is treated by administration of glucocorticoids.