Kraan G P, Wolthers B G, van der Molen J C, Nagel G T, Drayer N M, Joannou G E
Department of Paediatrics, University Hospital Groningen, The Netherlands.
J Steroid Biochem Mol Biol. 1993 May;45(5):421-34. doi: 10.1016/0960-0760(93)90011-k.
The identification of 3 new 15 beta-hydroxylated 21-deoxy-pregnanes in the urinary steroid profile of a 4-month-old girl with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is reported here. These steroids were identified by gas chromatography and gas chromatography-mass spectrometry as 3 alpha,15 beta,17-trihydroxy-5 alpha-pregnan-20-one (5 alpha II), 3 alpha,15 beta,17,20 alpha-tetrahydroxy-5 alpha-pregnane, and 3 alpha,15 beta,17,20 alpha-tetrahydroxy-5 beta-pregnane (20 alpha DH-II). Two other compounds in the urine, 3 beta,15 beta,17- trihydroxy-5 alpha-pregnan-20-one and 3 beta,15 beta,17-trihydroxy-5 beta-pregnan-20-one were also characterized. The identification of the former 3 steroids was obtained by comparing their methylene unit values and mass spectral data with the corresponding data of the standard steroids synthesized from 15 beta,17-dihydroxy-4-pregnene-3,20-dione. Seven other synthesized and identified 15 beta-hydroxylated steroids were 3 alpha,15 beta,17-trihydroxy-5 beta-pregnan- 20-one (II), 3 alpha,15 beta,17,20 beta-tetrahydroxy-5 beta-pregnane, 15 beta,17-dihydroxy-5 alpha-pregnane-3,20-dione, 15 beta,17-dihydroxy-5 beta-pregnane-3,20-dione, 3 alpha,15 beta-dihydroxy-5 alpha-androstan-17-one (15 beta OH-An), 3 alpha,15 beta-dihydroxy-5 beta-androstan-17-one (15 beta OH-Et) and 3 alpha,15 beta,17,20 beta- tetrahydroxy-5 alpha-pregnane. Of these the latter two have not been reported previously. This study supports the findings that 15 beta-hydroxylated steroids are common in the neonate and could play an important role in the diagnosis of CAH due to 21OHD, where II and the newly identified steroids from this investigation viz., 5 alpha II and 20 alpha DH-II appear the most important 15 beta-hydroxysteroid markers for this disease.
本文报道了在一名因21-羟化酶缺乏（21OHD）导致先天性肾上腺增生（CAH）的4个月大女孩的尿类固醇谱中鉴定出3种新的15β-羟基化21-脱氧孕烷。这些类固醇通过气相色谱和气相色谱-质谱法鉴定为3α,15β,17-三羟基-5α-孕烷-20-酮（5α II）、3α,15β,17,20α-四羟基-5α-孕烷以及3α,15β,17,20α-四羟基-5β-孕烷（20α DH-II）。尿液中的另外两种化合物3β,15β,17-三羟基-5α-孕烷-20-酮和3β,15β,17-三羟基-5β-孕烷-20-酮也得到了表征。前3种类固醇的鉴定是通过将它们的亚甲基单元值和质谱数据与由15β,17-二羟基-4-孕烯-3,20-二酮合成的相应标准类固醇的数据进行比较而获得的。另外7种已合成并鉴定的15β-羟基化类固醇为3α,15β,17-三羟基-5β-孕烷-20-酮（II）、3α,15β,17,20β-四羟基-5β-孕烷、15β,17-二羟基-5α-孕烷-3,20-二酮、15β,17-二羟基-5β-孕烷-3,20-二酮、3α,15β-二羟基-5α-雄甾烷-17-酮（15β OH-An）、3α,15β-二羟基-5β-雄甾烷-17-酮（15β OH-Et）以及3α,15β,17,20β-四羟基-5α-孕烷。其中后两种此前未见报道。本研究支持以下发现：15β-羟基化类固醇在新生儿中很常见，并且在因21OHD导致的CAH诊断中可能起重要作用，其中II以及本研究新鉴定出的类固醇即5α II和20α DH-II似乎是该疾病最重要的15β-羟基类固醇标志物。
