Skip to Content

17-hydroxylase deficiency syndrome


Definition: congenital deficiency of adrenocortical and gonadal (testicular and ovarian) steroid C-17a-hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces hypertension, and hypokalemic alkalosis while the low lex steroid secretion is associated with ambiguous genitalia in genetics(?) males and sexual infantilism in females. Both sexes fail to enter puberty. One of two rare causes of primary amenorrhea; autosomal recessive inheritance caused by mutation in one of the cytochrome P450 genes (CYP17) on chromosome 10q.

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.