Warne G L, Gyorki S, Risbridger G P, Khalid B A, Funder J W
Aust N Z J Med. 1983 Aug;13(4):335-41. doi: 10.1111/j.1445-5994.1983.tb04476.x.
Androgen receptor binding of radiolabelled methyltrienolone (3H-R1881) was determined in cultured genital skin fibroblasts from 17 normal male controls and from 65 males with genital abnormalities. Analysis of the results was performed with patients grouped according to the predominant clinical features. Of 16 patients with complete male pseudohermaphroditism, 12 had androgen receptor (AR) deficiency, one had "receptor-positive" Testicular Feminization, and in three, alternative diagnoses were established (17 alpha hydroxylase deficiency; 20,22-desmolase deficiency; mixed gonadal dysgenesis). In contrast, only four of 16 patients investigated for ambiguous genitalia (phallus intermediate between male and female, perineal urethra) showed AR deficiency. Borderline or slightly low AR levels were found in each of four boys in whom the sole abnormality was micropenis. In 26 boys with penile hypospadias, however, only one had low AR. Very low levels of AR (levels comparable to those seen in complete Testicular Feminization) were found in two of three men with infertility associated with abnormally high serum testosterone levels.
在来自17名正常男性对照和65名患有生殖器异常的男性的培养生殖器皮肤成纤维细胞中，测定了放射性标记的甲基三烯醇酮（3H-R1881）的雄激素受体结合情况。根据主要临床特征对患者进行分组，然后对结果进行分析。在16例完全性男性假两性畸形患者中，12例存在雄激素受体（AR）缺乏，1例患有“受体阳性”的睾丸女性化，3例确诊为其他疾病（17α-羟化酶缺乏；20,22-碳链裂解酶缺乏；混合性性腺发育不全）。相比之下，在16例因生殖器模糊（阴茎介于男性和女性之间、会阴尿道）而接受检查的患者中，只有4例显示AR缺乏。在仅存在小阴茎这一唯一异常的4名男孩中，每例都发现AR水平处于临界或略低状态。然而，在26例阴茎下裂男孩中，只有1例AR水平较低。在3例与血清睾酮水平异常升高相关的不育男性中，有2例发现AR水平极低（与完全性睾丸女性化中所见水平相当）。
