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.

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide