A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.

Abstract excerpt

17α-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia. It leads to a reduced production of cortisol and sex steroids and thus an increase in adrenocorticotrophic hormone and gonadotrophins levels. High adrenocorticotrophic hormone levels result in an accumulation of 17-deoxysteroids, such as deoxycorticosterone and corticosterone. Deoxycorticosterone and corticosterone have an important...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal Hyperplasia, Congenital
• Share to Amenorrhea