THE ADRENOGENITAL SYNDROME WITH DEFICIENCY OF 3β-HYDROXYSTEROID DEHYDROGENASE
THE ADRENOGENITAL SYNDROME WITH DEFICIENCY OF 3β-HYDROXYSTEROID DEHYDROGENASE
复制标题
缺乏 3β-羟基类固醇脱氢酶的肾上腺生殖综合征
DOI：
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发表时间：
1962
期刊：
影响因子：
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通讯作者：
A. Bongiovanni
中科院分区：
文献类型：
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作者：
A. Bongiovanni
关于由于缺乏3,8-羟基类固醇脱氢酶而引起的肾上腺生殖器综合症的三个病例的简要报告已经发表（1,2）。本报告的目的是扩展原始观察，详细说明方法方面，并提出某些临床相关性。缺乏11,8-羟化酶或21-羟化酶是肾上腺皮质增生伴肾上腺生殖器综合征的两种可能原因，目前已得到充分认识。最近对这些方面进行了详细的回顾(2)。关于21-羟化酶，肾上腺皮质组织中酶缺陷的直接证明仅在两个实例中是可能的(3)。这样的实验通常是不可能的，因为从患有这种疾病的人类受试者身上获得合适的组织明显困难。证据通常是间接的，并取决于在尿液或血液中有相对大量的“异常代谢物”的证明。这些代谢物的性质提供了缺陷部位的线索，因此间接证据不足的酶交易。缺乏3，/-羟基类固醇脱氢酶是这种疾病的第三个原因
A brief account of three cases of the adrenogenital syndrome due to a deficiency of 3,8-hydroxysteroid dehydrogenase has been published (1, 2). It is the purpose of this report to extend the original observations, detail the methodological aspects, and present certain clinical correlations.' The deficiency of 11,8-hydroxylase or 21-hydroxylase as two possible causes of the adrenogenital syndrome with adrenocortical hyperplasia is now well recognized. These aspects have been reviewed in detail recently (2). A direct demonstration of an enzymatic defect in adrenocortical tissue has been possible with respect to 21-hydroxylase in only two instances (3). Such experiments are not generally possible because of the obvious difficulties in obtaining suitable tissue from human subjects with this disorder. The evidence is generally indirect and depends upon the demonstration of "abnormal metabolites" in relatively large amount in the urine or blood. The nature of these metabolites provides the clue to the site of the defect, hence the indirect evidence for the deficient enzymatic transaction. A deficiency of the enzyme 3,/-hydroxysteroid dehydrogenase represents a third basis for the dis-