Congenital Adrenal Hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) is caused by a defect in any of the 5 enzymes necessary for the synthesis of cortisol. However, in more than 90% of cases, CAH results from a defect in the enzyme 21-hydroxylase. Antenatal dexamethasone for the treatment of fetuses with CAH was introduced in 1978, and has been shown to prevent virilizaton of affected girls. Some researchers have been concerned about the possible long-term side effects of this therapy. A variety of studies have evaluated cognition and behavioral traits as well as metabolic alterations in treated children and in animals, and some investigators have reported adverse effects of antenatal treatment, but no firm conclusions about the potential risks of dexamethasone have been reached. This review summarizes the outcomes of affected children with and without antenatal dexamethasone treatment, and evaluates the benefits of prenatal treatment as well as the potential risks. Obstetricians & Gynecologists, Family Physicians. After completion of this article, the reader should be able to recall the pathophysiology, broad clinical presentation, differences in prognosis with and without antenatal treatment, and face the importance of the antenatal dexamethasone treatment in congenital adrenal hyperplasia despite the potential adverse effects.