健常者および21-水酸化酵素欠損患者の尿中スデロイドの分析および同定, およびそれらの尿中排泄パターン

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Urinary steroids in normal males and females, whose ages ranged from 7 to 73, and 5 patients with 21-hydroxylase deficiency, 2 twin cases and a singleton case, were analyzed in some detail by gas-liquid chromatography (GCL) and our newly developed pretreatment procedure. Thereby, 40 steroids were found in the urine and two of them, pregnanetetrol-20β and pregnenetetrol-20β, which have so far not been reported in biological reports, were identified in the patients' urine.<BR>The differences in the steroid synthesis, as for sex and age, were confirmed by the results.<BR>Although the ratio, androsterone (An) /etiocholanolone (Et) was not so characteristic of sex as has been reported, a ratio : 1113-H0-An/11O-HO-Et was more characteristic of sex. That is, normal adult females had ratios below 5.1, and normal adult males were divided into two groups : one with a ratio below 5.1 and the other.<BR>The patients excreted not only large quantities of steroids lacking the hydroxyl group at C-21 position, which were never found in any of the urine from the normals, but also significant amounts of 21-HO-steroids that might explain steroid synthesis through by-pass ways or efficiencies of synthesis in these cases. The excretion and the ratios differed to an appreciable degree among the cases but not so greatly between the twin cases.<BR>This suggests that the detailing urinary steroid excretion represents a proper genetic expression of the enzyme activities on the biosynthesis and the metabolisms of steroids.
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健常者および21-水酸化酵素欠損患者の尿中スデロイドの分析および同定, およびそれらの尿中排泄パターン

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