Update in Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia.

Overview

The adrenal cortex is responsible for the synthesis of glucocorticoids, mineralocorticoids, and adrenal androgens, all derived from cholesterol through a series of enzymatic reactions. This process is known as steroidogenesis. Deficiency of various enzymes required for steroid synthesis causes congenital adrenal hyperplasia (CAH), a group of inherited disorders characterized by impaired cortisol synthesis often accompanied by mineralocorticoid deficiency and abnormalities in androgen synthesis, depending on the specific enzyme defect. The most common type of CAH is 21-hydroxylase deficiency. Management of all CAH types typically requires glucocorticoid therapy.