Abstract
The urinary steroidal pattern was reviewed in 7 cases of 21-hydroxylase deficiency (21-H) and 3 of 3β-hydroxysteroid dehydrogenase deficiency (3β-D). These were compared with 3 normals and 1 adrenal tumor of similar age. Pregnanetriol not only predominates in the urine of those with 21-H deficiency over Δ5-pregnene-3β, 17α, 21α-triol but in no instance did the latter substance exceed 0.9 mg./day and the ratio was 50:1 or greater. In 3β-D deficiency although pregnanetriol was found in each (in one case 34.6 mg/day) there was great elevation of pregnenetriol and the ratio was 2:1 or less. In one experiment 17-hydroxypregnenolone administered to a normal volunteer was converted exclusively into pregnanetriol. It is proposed that in 3β-D deficiency there may be peripheral conversion to pregnanetriol and careful measurement of these two triols can differentiate the two conditions. In addition pregnanetriolone was not found in 3β-D deficiency but was present in the 21-H deficiency. Gas chromatography was employed in these studies. The earlier hypothesis from this laboratory that pregnanetriol in 3β-D deficiency might represent a double defect no longer appears valid. (Drs. Maria I. New and Frederic M. Kenny kindly supplied specimens from 2 estalished cases).
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Bongiovanni, A., Eberun, W., Moshang, T. et al. Urinary steroidal patterns in adrenogential syndrome. Pediatr Res 5, 400 (1971). https://doi.org/10.1203/00006450-197108000-00122
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DOI: https://doi.org/10.1203/00006450-197108000-00122