Aono T, Kurachi H, Kinugasa T, Takayasu S, Matsumoto K, Kurachi K
Obstet Gynecol. 1979 Dec;54(6):762-6.
A 19-year-old phenotypic female with gonadal agenesis and XY karyotype underwent an endocrinologic study. She lacked secondary sexual characteristics and there was posterior labial fusion, absence of vagina, and no gonadal or gonadal duct tissues present at laparotomy. Elevated levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) responded well to intravenous injection of LH-releasing hormone (LH-RH) but did not respond to clomiphene citrate. Both OH and FSH levels were suppressed by administration of testosterone or estrogen. Low serum concentration of testosterone did not respond to human chorionic gonadotropin (hCG) injection. Dihydrotestosterone binding by cultured skin fibroblast revealed the existence of a binding component with low capacity and high affinity. This is the first report of a patient with XY gonadal agenesis in whom androgen receptors in the target cells are demonstrated.
一名19岁、表现型为女性、患有性腺发育不全且核型为XY的患者接受了内分泌学研究。她缺乏第二性征，阴唇后联合融合，阴道缺失，剖腹探查时未发现性腺或性腺管组织。促黄体生成素（LH）和促卵泡生成素（FSH）水平升高，静脉注射促黄体生成素释放激素（LH-RH）后反应良好，但对枸橼酸氯米芬无反应。睾酮或雌激素给药可抑制OH和FSH水平。低血清睾酮浓度对人绒毛膜促性腺激素（hCG）注射无反应。培养的皮肤成纤维细胞对双氢睾酮的结合显示存在一种低容量、高亲和力的结合成分。这是第一例报道的XY性腺发育不全患者，其靶细胞中的雄激素受体得到了证实。
