Identification of new steroids in patients with 17 alpha-hydroxylase deficiency by capillary gas chromatography/mass spectrometry.
Urines of two children with 17 alpha-hydroxylase deficiency contained a number of 5-pregnane- and pregnenediols, -triols and -tetrols with a hydroxy or oxo group in position 11 of the steroid ring. They are formed mainly from progesterone via 11-hydroxyprogesterone, pregnanolone and corticosterone, respectively, or from pregnenolone. Three metabolites not previously described, 16-hydroxypregnenolone, 6,21-dihydroxypregnanediol and 6-hydroxytetrahydrocorticosterone, were identified.
D000312:Adrenal Hyperplasia, Congenital; D003345:Corticosterone / Q000031:analogs & derivatives / Q000652:urine; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D011284:Pregnenolone / Q000031:analogs & derivatives / Q000652:urine; D011374:Progesterone / Q000031:analogs & derivatives / Q000652:urine; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013256:Steroids / Q000652:urine*
D013256:Steroids; D011374:Progesterone; D011284:Pregnenolone; D013250:Steroid Hydroxylases; D003345:Corticosterone