Price P, Wass J A, Griffin J E, Leshin M, Savage M O, Large D M, Bu'Lock D E, Anderson D C, Wilson J D, Besser G M
J Clin Invest. 1984 Oct;74(4):1496-508. doi: 10.1172/JCI111563.
We describe the clinical and biochemical features of six men with male pseudohermaphroditism due to androgen resistance. Each of the subjects had male-gender behavior but incomplete virilization. The underlying defects in androgen metabolism were defined by studies of the 5 alpha-reductase enzyme and the androgen receptor in fibroblasts cultured from biopsies of genital skin. Four of the six have 5 alpha-reductase deficiency, and two have defects of the androgen receptor (the Reifenstein syndrome). The responses of these men to androgen treatment were assessed by monitoring nitrogen balance, plasma luteinizing hormone (LH) values, and clinical parameters of virilization including penile growth, potency and ejaculatory volume, muscle bulk, and growth of body and facial hair. In all of the subjects with 5 alpha-reductase deficiency and one man with the Reifenstein syndrome significant response occurred, as evidence by nitrogen retention, lowered plasma LH levels, and improved virilization, with doses of parenteral testosterone esters that raised plasma testosterone levels above the normal male range and brought plasma dihydrotestosterone levels into the normal male range. The subject who did not respond with clinical virilization nevertheless showed nitrogen retention in response to acute testosterone administration. This patient had a profound deficiency of the androgen receptor, whereas the man with a receptor defect who did respond clinically to therapy had normal amounts of a qualitatively abnormal receptor. We conclude that high dose androgen therapy may be of benefit in improving virilization, self-image, and sexual performance in subjects with 5 alpha-reductase deficiency who have male-gender behavior and in some subjects with defects of the androgen receptor.
我们描述了6名因雄激素抵抗导致男性假两性畸形男性的临床和生化特征。每名受试者均有男性性别行为，但男性化不完全。通过对取自生殖器皮肤活检培养的成纤维细胞中的5α-还原酶和雄激素受体进行研究，确定了雄激素代谢的潜在缺陷。6名患者中有4名存在5α-还原酶缺乏，2名存在雄激素受体缺陷（赖芬斯坦综合征）。通过监测氮平衡、血浆黄体生成素（LH）值以及男性化的临床参数，包括阴茎生长、性功能和射精量、肌肉量以及身体和面部毛发的生长，评估了这些男性对雄激素治疗的反应。在所有5α-还原酶缺乏的受试者以及1名患有赖芬斯坦综合征的男性中，出现了显著反应，表现为氮潴留、血浆LH水平降低以及男性化改善，使用的非肠道睾酮酯剂量使血浆睾酮水平升高至正常男性范围以上，并使血浆双氢睾酮水平进入正常男性范围。未出现临床男性化反应的受试者在急性给予睾酮后仍表现出氮潴留。该患者存在严重的雄激素受体缺乏，而临床上对治疗有反应的受体缺陷男性具有正常数量但性质异常的受体。我们得出结论，高剂量雄激素治疗可能有助于改善具有男性性别行为的5α-还原酶缺乏受试者以及一些雄激素受体缺陷受试者的男性化、自我形象和性功能。
