Johnson L, George F W, Neaves W B, Rosenthal I M, Christensen R A, Decristoforo A, Schweikert H U, Sauer M V, Leshin M, Griffin J E
J Clin Endocrinol Metab. 1986 Nov;63(5):1091-9. doi: 10.1210/jcem-63-5-1091.
The testes of five phenotypic women (from four families) with 5 alpha-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 5 alpha-reduced steroids dihydrotestosterone and 3 alpha-androstanediol were less than 10% of those in normal subjects. We conclude that the testis is involved in 5 alpha-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 5 alpha-reductase deficiency or testicular maldescent is not clear.
对五名（来自四个家族）患有5α-还原酶缺乏症的表型女性的睾丸进行了研究。其中一名患者，其睾丸、附睾以及从大阴唇培养的成纤维细胞中的酶缺乏情况相似。在四名患者的睾丸中，5α-还原代谢类固醇双氢睾酮和3α-雄烷二醇的浓度低于正常受试者的10%。我们得出结论，睾丸参与了5α-还原酶缺乏症。在所有五名受试者的睾丸活检中，精子发生受损均很明显，其中两名受试者睾丸匀浆中估计的精子产生量不到正常水平的10%。精子发生停滞在何种程度上是由于5α-还原酶缺乏或睾丸未降尚不清楚。
