An update of congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of adrenal steroidogenesis. Each of these disorders results from a deficiency in one of the several enzymatic steps necessary for normal steroid synthesis. Since the earliest case of CAH documented in 1865 by the Neapolitan anatomist De Crecchio (1), numerous investigators have unraveled the mechanisms of adrenal steroid synthesis and the associated enzyme defects responsible for the clinical syndromes. This report includes recent advances in the investigation and understanding of these disorders. The adrenal glands synthesize three main classes of hormones: mineralocorticoids, glucocorticoids, and sex steroids. Figure 1 shows a simplified scheme of the adrenal synthesis of these steroids from the cholesterol precursor molecule. Each enzymatic step is indicated.