[An analysis and identification of urinary steroids in normal people and patients with 21-hydroxylase deficiency and urinary excretion patterns]

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 -20 beta and pregnenetetrol -20 beta, which have so far not been reported in biological reports, were identified in the patients' urine. The differences in the steroid synthesis, as for sex and age, were confirmed by the results. Although the ratio, androsterone (An)/etiocholanolone (Et) was not so characteristic of sex as has been reported, a ratio: 11 beta-HO-An/11 beta-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. 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. 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.