一名因促卵泡生成素无活性而性腺功能减退的女孩患碳水化合物缺乏性糖蛋白综合征。
Carbohydrate-deficient glycoprotein syndrome in a girl with hypogonadism due to inactive follicle stimulating hormone.
作者信息
Ohzeki T, Motozumi H, Hanaki K, Ohtahara H, Urashima H, Tsukuda T, Kobayashi S, Shiraki K, Ohno K
机构信息
Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
出版信息
Horm Metab Res. 1993 Dec;25(12):646-8. doi: 10.1055/s-2007-1002198.
We report a very rare case of a girl with hypogonadism probably due to inactive FSH. She had been diagnosed as carbohydrate-deficient glycoprotein syndrome. The 14-year-old patient had no secondary sexual characteristics with the 46,XX karyotype and estradiol (E2) levels were undetectable. Follicle stimulating hormone (FSH) levels were extremely high and responded exaggeratedly to luteinizing hormone-releasing hormone (LH-RH). The E2 levels, on the other hand, were elevated after stimulation with human menopausal gonadotropin (75 units/day) for 5 days, suggesting biologically inactive FSH in the circulation. Abnormal structure in the glycoprotein may be possibly related with hypogonadism.
我们报告了一例极为罕见的性腺功能减退女孩病例，可能是由于促卵泡生成素（FSH）无活性所致。她被诊断为糖蛋白缺乏综合征。这位14岁的患者没有第二性征，核型为46,XX，雌二醇（E2）水平检测不到。促卵泡生成素（FSH）水平极高，对促黄体生成素释放激素（LH-RH）反应过度。另一方面，用人绝经期促性腺激素（75单位/天）刺激5天后，E2水平升高，提示循环中的FSH生物学活性缺失。糖蛋白结构异常可能与性腺功能减退有关。
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