Wolthers B G, de Vries I J, Volmer M, Nagel G T
Central Laboratory for Clinical Chemistry, University Hospital, Groningen, The Netherlands.
Clin Chim Acta. 1987 Oct 30;169(1):109-16. doi: 10.1016/0009-8981(87)90399-8.
A urinary steroid excretion pattern of a 3-wk-old newborn, suffering from 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency, has been produced, employing capillary gas chromatography and subsequent mass spectrometric identification of the various excreted steroids. The diagnosis could be established, apart from the clinical symptoms, on the basis of a grossly elevated excretion of 16-OH-DHEA and 16-OH-pregnenolone, combined with mass spectrometric identification of the following steroids: 17-OH-preganolone, pregnanetriol, pregnanolone, pregnenetriol and 17-OH-pregnenolone.
利用毛细管气相色谱法以及随后对各种排泄类固醇进行质谱鉴定，得出了一名患有3β-羟基类固醇脱氢酶（3β-HSD）缺乏症的3周大新生儿的尿类固醇排泄模式。除临床症状外，基于16-OH-DHEA和16-OH-孕烯醇酮的排泄量大幅升高，结合对以下类固醇的质谱鉴定：17-OH-孕烷醇酮、孕三醇、孕烷二醇、孕烯三醇和17-OH-孕烯醇酮，可做出诊断。
