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

Abstract

Abstract Background and Methods. 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. Results. Twenty women (12 percent) had 3β-hydroxy△5-steroid dehydrogenase deficiency, 18 (10 percent) 21-hydroxylase deficiency (14 homozygous), and 14 (8 percent) 11β-hydroxylase deficiency. All the homozygous women with 21-hydroxylase deficiency also had evidence of a partial deficiency in 11β-hydroxylase activity. Similarly, most ...