The cause of congenital adrenal hyperplasia is an inherited genetic defect that limits production of one of the many enzymes the adrenal glands use to make cortisol. The enzyme most commonly lacking in congenital adrenal hyperplasia is 21-hydroxylase. Congenital adrenal hyperplasia may sometimes be called 21-hydroxylase deficiency.
Supplying sufficient glucocorticoid to reduce hyperplasia and overproduction of androgens or mineralocorticoids, Providing replacement mineralocorticoid and extra salt if the person is deficient, Providing replacement testosterone or estrogen at puberty if the person is deficient, Additional treatments to optimize growth by delaying puberty or delaying bone maturation, Genital reconstructive surgery to correct problems produced by abnormal genital structure
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases ensuing from mutations of genes for enzymes mediating the biochemical steps of making of cortisol from cholesterol by the adrenal glands. Most of these conditions engross excessive or deficient production of sex steroids and can alter growth of primary or secondary sex characteristics in some affected infants, children, or adults. Only a small minority of people with CAH can be said to have an intersex situation, but this attracted American public attention in the late 1990s and many accounts of varying accurateness have appeared in the popular media. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency.