Montalto J, Funder J W, Yong A B, Whorwood C B, Connelly J F
Department of Biochemistry, Royal Children's Hospital, Melbourne, Australia.
J Steroid Biochem Mol Biol. 1990 Nov 30;37(4):593-8. doi: 10.1016/0960-0760(90)90406-b.
Serum sulphates of 5-androstene-3 beta,17 beta-diol (5-ADIOL-S), 5 alpha-androstane-3 alpha,17 beta-diol (3 alpha-DIOL-S) and dehydroepiandrosterone (DHEA-S), as well as 5 alpha-androstane-3 alpha,17 beta-diol glucuronide (3 alpha-DIOL-G) and unconjugated androstenedione (AD) and testosterone (T), sex hormone binding globulin (SHBG), free androgen index (FAI) and 17 alpha-hydroxyprogester-one (17OHP) were measured by specific radioimmunoassays (RIA) in 14 women with late-onset 21-hydroxylase deficiency (LOCAH), and in normal women (n = 73). The diagnosis of LOCAH was made on the finding of a (17OHP) response level greater than 30 nmol/l following ACTH stimulation, and/or an elevation of urinary metabolites of 17OHP. Mean values for serum concentrations of all steroids measured and the free androgen index (100 X T nmol/l divided by SHBG nmol/l) were significantly elevated, and SHBG levels depressed in patients with LOCAH. These studies show that in LOCAH, in addition to the unconjugated steroids AD and T, the sulphoconjugated steroids DHEA-S, 5-ADIOL-S and 3 alpha-DIOL-S are increased, as is the glucuronide conjugate 3 alpha-DIOL-G and the index of bioavailable testosterone (FAI), and that mean SHBG levels are depressed. These data suggest that as well as AD, 5-ADIOL-S and DHEA-S may act as pro-hormones for more potent steroids (T and 5 alpha-dihydrotestosterone) in peripheral tissues, while 3 alpha-DIOL-S and 3 alpha-DIOL-G may both reflect peripheral androgen metabolism in patients with LOCAH.
采用特异性放射免疫分析法（RIA）测定了14例迟发型21 - 羟化酶缺乏症（LOCAH）女性患者及正常女性（n = 73）血清中的5 - 雄烯 - 3β，17β - 二醇硫酸盐（5 - ADIOL - S）、5α - 雄烷 - 3α，17β - 二醇硫酸盐（3α - DIOL - S）、脱氢表雄酮硫酸盐（DHEA - S），以及5α - 雄烷 - 3α，17β - 二醇葡萄糖醛酸苷（3α - DIOL - G）、游离雄烯二酮（AD）、睾酮（T）、性激素结合球蛋白（SHBG）、游离雄激素指数（FAI）和17α - 羟孕酮（17OHP）。LOCAH的诊断依据为促肾上腺皮质激素（ACTH）刺激后17OHP反应水平大于30 nmol/L，和/或17OHP尿代谢产物升高。LOCAH患者中所测所有类固醇的血清浓度均值及游离雄激素指数（100×T nmol/L除以SHBG nmol/L）显著升高，而SHBG水平降低。这些研究表明，在LOCAH中，除了游离类固醇AD和T外，硫酸结合类固醇DHEA - S、5 - ADIOL - S和3α - DIOL - S增加，葡萄糖醛酸结合物3α - DIOL - G和生物可利用睾酮指数（FAI）也增加，且SHBG平均水平降低。这些数据表明，除了AD外，5 - ADIOL - S和DHEA - S可能在外周组织中作为更具活性的类固醇（T和5α - 双氢睾酮）的前体激素，而3α - DIOL - S和3α - DIOL - G可能都反映了LOCAH患者的外周雄激素代谢。
