THE ADRENOGENITAL SYNDROME WITH DEFICIENCY OF 3β-HYDROXYSTEROID DEHYDROGENASE*

Open Access
Publisher Website
Google Scholar
Abstract
Detailed analysis of the steroidal content of the urine from 6 subjects with the clinical manifestations of the adrenogenital syndrome reveal a preponderance of 5-3 -ol compounds. There was deficiency of those "normal" pregnane derivatives associated with previously described forms of this disorder. The evidence points to a deficiency of 3-ol hydroxysteroid dehydrogenase, hitherto undescribed. Peculiarly 3 of the subjects, who were males, revealed marked hypospadias, suggesting deficiency of the same enzyme in all tissues, including the testes, hence leading to a failure of complete male genital organogenesis. The dominant steroidal compounds isolated were: dehydroepiandrosterone, 5-pregnene-3,17,20-triol, 5-pregnene-3, 17-diol, 3,17-dihydroxy-5-pregnene-20-one, 5-pregnene- 3, 17, 20, 21-tetrol.