Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, part 2

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 second part of this two-part review discusses the diagnosis and the management of CAH. Although methods for the diagnosis of CAH have not changed over the past few years, new therapeutic approaches are changing the management of CAH. In particular, new drugs and new drug combinations are being tested and old dogmas are being questioned. Early diagnosis, careful discussion with family members of newborns with CAH during the early decision-making process, and close management will decrease the mortality rate and improve the long-term psychological/physical outcome of these children.