Characterization of the Testicular Abnormality in 5a-Reductase Deficiency*

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Abstract
The testes of five phenotypic women (from four families) with 5ª-reductase deficiency were studied. In one of the patients, the enzyme deficiency was similar in the testis and epididymis and in fibroblasts cultured from the labia majora. In testes from four of the patients, the concentrations of the 55ªreduced steroids dihydrotestosterone and 3ª-androstanediol were less than 10% of those in normal subjects. We conclude that the testis is involved in 55ª-reductase deficiency. Impaired spermatogenesis was evident in testicular biopsies from all five subjects, and in two, sperm production, as estimated in testicular homogenates, was less than 10% of normal. The extent to which spermatogenic arrest is due to 55ª-reductase deficiency or testicular maldescent is not clear. (J Clin Endocrinol Metab63: 1091, 1986)