Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). CAH is one of the possible underlying synthesis problems in Addison’s disease. CAH is a genetic disorder in which girls are masculinized because the adrenal glands secrete large amounts of androgen during prenatal development. The extra androgen does not affect a baby boy's physical development, but in baby girls it can enlarge the clitoris so that it resembles a penis. The girls sometimes have surgery during infancy to correct their physical appearance, although this practice is highly controversial, and they can receive hormone therapy to correct the imbalance of androgen. During childhood and adolescence, girls with CAH prefer masculine activities and male playmates to a much greater extent than girls not exposed to these amounts of androgen.

Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.