title: Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency (NC-3BHSD).
abstract: The diagnosis of non-classical 3 beta-hydroxysteroid dehydrogenase deficiency (NC-3BHSD) is made either on the basis of significantly elevated serum levels of basal and post-ACTH 5-ene-steroids or by the presence of elevated urinary 5-ene-steroid metabolites. There has been only one report to date describing a single patient where the diagnosis was based on both serum and urinary 5-ene-steroid levels. We, therefore, measured both serum 5-ene-steroid responses to ACTH 1-24 (by RIA) and urinary 5-ene-steroid metabolites (GC-MS) in 42 hirsute premenopausal women. While the serum 5-ene-steroid profile was consistent with NC-3BHSD in 5 women, only 2 of them had increased excretion of 5-ene-steroid metabolites. Elevated 5-ene-steroid excretion was also observed in several patients with normal serum 5-ene-steroids. Detection of NC-3BHSD by either elevated serum 5-ene-steroids or increased urinary excretion of their metabolites in isolation may not therefore be reliable.
authors.affiliation: Department of Clinical Biochemistry, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: C B
authors.initials: CB
authors.lastname: Whorwood
authors.forename: J
authors.initials: J
authors.lastname: Montalto
authors.forename: S R
authors.initials: SR
authors.lastname: Sandars
authors.forename: J F
authors.initials: JF
authors.lastname: Connelly
mesh_terms: D015068:17-Ketosteroids / Q000097:blood / Q000652:urine*; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D000328:Adult; D003366:Cosyntropin / Q000494:pharmacology; D005260:Female; D006801:Humans; D008297:Male; D011283:Pregnenes / Q000097:blood / Q000652:urine*; D013268:Stimulation, Chemical
chemical_list: D015068:17-Ketosteroids; D011283:Pregnenes; D003366:Cosyntropin; D015096:3-Hydroxysteroid Dehydrogenases