The Nonclassic Adrenal Hyperplasias

Abstract

A review. Nonclassic adrenal hyperplasia (NCAH) resulting from 11β-hydroxylase or 3β-hydroxysteroid dehydrogenase is very rare and may not even exist in women presenting with hyperandrogenism in adulthood. Consequently, screening for these disorders in hyperandrogenic patients is not generally necessary. Alternatively, 21-hydroxylase (21-OH)-deficient NCAH has been increasingly recognized in adolescent or adult hyperandrogenic patients. It is now widely accepted that neither clin. presentation nor androgen plasma levels can be used for the screening or diagnosis of 21-OH-deficient NCAH in hyperandrogenic women, esp. those presenting with a polycystic ovary syndrome (PCOS)-like phenotype. Therefore, the measurement of a follicular morning level of serum 17α-hydroxyprogesterone (17-OHP) should be included in the initial investigation of all hyperandrogenic women, including those with premature pubarche. A basal screening level of 17-OHP of more than 2-4 ng/mL mandates an acute adrenocorticotropic hormone (ACTH) stimulation test to confirm the diagnosis. A post-ACTH stimulation 17-OHP level of 10-12 ng/mL is consistent with the diagnosis of NCAH. The diagnosis of 21-OH-deficient NCAH has important implications for preconception counseling and potentially for the prevention of adrenal insufficiency during illness or surgery. [on SciFinder(R)]