Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, Part 1

Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders with defects in the synthesis of cortisol. The synthesis of other steroids such as mineralocorticoids and adrenal/gonadal sex steroids may also be affected. The clinical presentation of the various forms of CAH depend on the following: (1) the affected enzyme, (2) the residual enzymatic activity, (3) the physiologic consequences of deficiencies of the end-products and excess of precursors. The first part of this two-part review discusses the genetics, biochemistry, and clinical presentation of the different forms of CAH. Understanding the genetics and pathophysiology of each of the various enzyme mutations is essential for the evaluation and management of the different clinical forms of CAH.