Blau N, Zachmann M, Kempken B, Staudenmann W, Möhr E, Curtius H C
Department of Pediatrics, University of Zurich, Switzerland.
Biomed Environ Mass Spectrom. 1987 Nov;14(11):633-7. doi: 10.1002/bms.1200141111.
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.
两名患有17α-羟化酶缺乏症儿童的尿液中含有多种5-孕甾烷以及孕甾二醇、三醇和四醇,这些甾体环的11位带有羟基或氧代基团。它们分别主要由孕酮经11-羟孕酮、孕烷醇酮和皮质酮形成,或由孕烯醇酮形成。鉴定出了三种此前未描述过的代谢物,即16-羟基孕烯醇酮、6,21-二羟基孕烷二醇和6-羟基四氢皮质酮。