title: Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents.
abstract: Patients suffering from late onset 21-hydroxylase deficiency (LO-CAH) excreted only slightly higher amounts of 17-hydroxypregnanolone (17-OH-PO), pregnanetriol (PT) and 11-oxo-pregnanetriol (11-O-PT) than age-matched healthy controls. To discriminate between LO-CAH and virilization of unknown origin and precocious pubarche, we calculated the following ratios: (1) pregnanetriol to tetrahydrocortisone (PT/THE), (2) the sum of 17-OH-PO, PT and 11-O-PT (OHP-M) to the sum of THE, tetrahydrocortisol (THF) and allotetrahydrocortisol (a-THF) (C-M) and (3) 11-O-PT to C-M. The following patients were studied: 9 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency-non-salt losing (CAH-NSL), never treated; 8 patients with CAH (NSL/SL: 3/5) off treatment; 10 patients with LO-CAH; 11 patients with virilization of unknown origin (prepubertal/pubertal: 5/6) and 9 patients with precocious pubarche. Healthy individuals and obligatory heterozygote carriers of comparable ages served as controls. LO-CAH showed increased ratios (median (range] of PT/THE: 2.27, (1.15-9.09), OHP-M/C-M: 2.30, (1.24-8.15), and 11-O-PT/C-M: 0.24, (0.13-1.23) compared to healthy individuals and heterozygous carriers: PT/THE 0.28, (0.03-0.57), OHP-M/C-M 0.23, (0.06-0.46) and 11-O-PT/C-M less than 0.01, (less than 0.01-0.06), respectively. The calculation of ratios, rather than absolute amounts seems to allow the detection of LO-CAH in a single spontaneously voided urine specimen. The clinical and measurable hormonal manifestations of LO-CAH occur at the same time.
authors.affiliation: First Department of Paediatrics, University of Ulm, Federal Republic of Germany.
authors.forename: J
authors.initials: J
authors.lastname: Homoki
authors.forename: J
authors.initials: J
authors.lastname: Solyom
authors.forename: W M
authors.initials: WM
authors.lastname: Teller
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000652:urine*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011278:Pregnanes / Q000652:urine*; D011279:Pregnanetriol / Q000031:analogs & derivatives* / Q000652:urine*; D011280:Pregnanolone / Q000031:analogs & derivatives / Q000652:urine*; D011629:Puberty, Precocious / Q000652:urine; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013760:Tetrahydrocortisol / Q000652:urine; D014770:Virilism / Q000652:urine
chemical_list: D011278:Pregnanes; D011279:Pregnanetriol; C013051:17-hydroxypregnanolone; C009030:pregnanetriolone; D013760:Tetrahydrocortisol; D011280:Pregnanolone; D013250:Steroid Hydroxylases