How is congenital adrenal hyperplasia treated?
In general, congenital adrenal hyperplasia is treated with the long-term administration of hydrocortisone at a dose of 10 to 15 mg/m 2 per day.
This provides negative feedback to the pituitary, decreases corticotropin release, and corrects excessive mineralocorticoid and sex steroid synthesis. In salt-wasting forms of congenital adrenal hyperplasia, such as 21-hydroxylase deficiency, the administration of fludrocortisone and sodium chloride is usually necessary.
Virilized females with 11β-hydroxylase deficiency require surgical correction of the external genitalia. Sex steroids are necessary in patients with hypogonadotropic hypogonadism, such as in 17α-hydroxylase deficiency. Maternal treatment with dexamethasone during pregnancy has been successful in preventing abnormal fetal genital development. On the horizon is gene therapy, which works in adrenocortical cell lines and animal models.