Congenital adrenal hyperplasia

Abstract

Adrenal steroid synthesis is a complex sequential process involving a series of enzymes acting in a coordinated fashion on cholesterol to produce gluco- and mineralocorticoids. Congenital adrenal hyperplasia has traditionally been used to describe the alterations in adrenal steroid synthesis which result in decreased cortisol production. There is a compensatory elevation of ACTH which in increasing the drive on steroid production leads to increased levels of pre-block products. The final result is a variety of clinical pictures determined by cortisol deficiency and excess of hormones and products proximal to the defect. 21 and 11 hydroxylase deficiency are the most common forms of CAH which will be reviewed along with the less common forms of enzyme deficiency.