Congenital adrenal hyperplasia.

Abstract

An autosomal recessive disorder, congenital adrenal hyperplasia, results from a deficiency in the activity of one of the five enzymes required for cortisol biosynthesis. More than 90% of cases are related to deficiency in 21-hydroxylase enzyme activity, which is required for the conversion of 17OH-progesterone to 11-deoxycortisol. Treatment of congenital adrenal hyperplasia consists of steroid replacement to ensure normal growth and reproductive potential.

• Authors: I A Hughes
• Journal: Trends in endocrinology and metabolism: TEM (Trends Endocrinol Metab) 1990 Jan-Feb Vol. 1 Issue 3 Pg. 123-8 ISSN: 1043-2760 [Print] United States
• PMID: 18411104 (Publication Type: Clinical Conference, Journal Article)