Berkovitz G D, Brown T R, Migeon C J
Clin Endocrinol Metab. 1983 Mar;12(1):155-73. doi: 10.1016/s0300-595x(83)80034-6.
Testosterone and its active metabolite dihydrotestosterone exert their influence on target cells through a specific intracellular protein receptor. Structural abnormalities of this receptor lead to a diminished androgen action within the cell and result in the syndrome of androgen insensitivity. Androgen insensitivity is classified on the basis of whether the insensitivity is complete or partial and whether the androgen receptor is normally present (AR(+)), absent (AR(-)) or diminished (AR(+/-)). All patients with androgen insensitivity have normal or high plasma levels of testosterone and elevated serum LH. Patients with complete androgen insensitivity are phenotypically female. The clinical presentation of partial androgen insensitivity is variable, ranging from a minimal amount of virilization to a completely masculine appearance. All patients described with a syndrome of androgen insensitivity are infertile. The influence of androgen receptor function in the pathogenesis of benign prostatic hypertrophy is being investigated. Androgen receptor content is also being studied as a possible marker of responsiveness to hormonal therapy in prostatic carcinoma.
睾酮及其活性代谢物双氢睾酮通过特定的细胞内蛋白受体对靶细胞发挥作用。该受体的结构异常会导致细胞内雄激素作用减弱，进而引发雄激素不敏感综合征。雄激素不敏感根据不敏感是完全还是部分以及雄激素受体是正常存在（AR(+)）、缺失（AR(-)）还是减少（AR(+/-)）进行分类。所有雄激素不敏感患者的血浆睾酮水平正常或升高，血清促黄体生成素（LH）升高。完全雄激素不敏感患者的表型为女性。部分雄激素不敏感的临床表现各异，从轻微男性化到完全男性外观不等。所有被描述为雄激素不敏感综合征的患者均不育。雄激素受体功能在良性前列腺增生发病机制中的作用正在研究中。雄激素受体含量也正在作为前列腺癌对激素治疗反应性的可能标志物进行研究。
