Secondary Biosynthetic Defects in Women with Late-Onset Congenital Adrenal Hyperplasia

Abstract
Late-onset (nonclassic) congenital adrenal hyperplasia is a cause of hirsutism, menstrual disorders, and infertility, but its frequency and the patterns of abnormalities in adrenal hormone secretion are not well understood. We investigated the frequency and ethnic distribution of nonclassic congenital adrenal hyperplasia due to deficiencies of 3β-hydroxy△5-steroid dehydrogenase, 21-hydroxylase, or 11β-hydroxylase among 170 Israeli Jewish women with these clinical problems. All enzyme defects were identified by comparing the patients' hormonal responses to a 0.25-mg intravenous bolus dose of α1–24-ACTH with those of 26 age-matched normal women.