21-hydroxylase deficiency occurs in about 1 in 5000 live births. Biochemically, 17 alpha-hydroxyprogesterone and its metabolites, androstenedione and testosterone are increased but cortisol is decreased. In 70% of cases, the enzyme defect is incomplete and increased ACTH stimulation maintains cortisol levels.
11-hydroxylase deficiency is much less frequent, with an incidence of 1 in 100 000 live births. 11-deoxycortisol is not converted to cortisol and accumulated precursors are diverted into androgen production. Testosterone and androstenedione are usually raised. Uncommonly, DHEA-S - dehydroepiandrosterone sulfate - is increased. Hypertension may occur; salt-losing crises do not.
3-beta hydroxysteroid dehydrogenase deficiency is rare. It is marked by decreased testosterone, mineralocorticoid, and glucocorticoid. DHEA-S is raised.
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.