Prenatal treatment of congenital adrenal hyperplasia - The United States experience

Congenital adrenal hyperplasia (CAH) is a term describing a family of monog enic autosomal recessive disorders of steroidogenesis in which enzymatic de fects result in impaired synthesis of cortisol by the adrenal cortex. 21-hy droxylase deficiency (21-OH) is the most common enzymatic defect causing CA H and occurs in a classic form that can cause genital ambiguity at birth in genetic females. An algorithm has been developed for prenatal diagnosis an d treatment. Dexamethasone is administered to the pregnant mother to suppre ss excess adrenal androgen secretion and prevent virilization should the fe tus be an affected female. This is the first instance of an inborn metaboli c error to be successfully treated prenatally.