High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor.
High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor.
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由于 5α-还原酶缺乏和雄激素受体紊乱引起的男性假两性畸形的高剂量雄激素治疗。
DOI：
10.1172/jci111563
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Besser,GM
中科院分区：
文献类型：
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作者：
Price,P;Wass,JA;Griffin,JE;Leshin,M;Savage,MO;Large,DM;Bu'Lock,DE;Anderson,DC;Wilson,JD;Besser,GM
我们描述了六名男性假两性畸形由于雄激素抵抗的临床和生化特征。每个受试者都有男性性别行为，但不完全男性化。雄激素代谢的潜在缺陷是通过对生殖器皮肤活检培养的成纤维细胞中5 α-还原酶和雄激素受体的研究来确定的。六个人中有四个患有5 α还原酶缺乏症，两个患有雄激素受体缺陷（赖芬斯坦综合征）。这些男性对雄激素治疗的反应通过监测氮平衡、血浆促黄体生成激素（LH）值和男性化的临床参数（包括阴茎生长、效力和射精量、肌肉体积以及体毛和面部毛发的生长）进行评估。在所有5 α-还原酶缺乏的受试者和一名赖芬斯坦综合征患者中，发生了显著的反应，如氮潴留、血浆LH水平降低和男性化改善所证明的，给予一定剂量的胃肠外睾酮酯，使血浆睾酮水平升高至正常男性范围以上，并使血浆二氢睾酮水平进入正常男性范围。没有临床男性化反应的受试者在急性睾酮给药后仍显示氮潴留。这个病人有严重的雄激素受体缺陷，而有受体缺陷的人对治疗有临床反应，但受体数量正常。我们的结论是，大剂量雄激素治疗可能有利于改善男性行为的5 α-还原酶缺乏症受试者和某些雄激素受体缺陷受试者的男性化、自我形象和性行为。
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.Images