Wannarachue N, Ruvalcaba R H
Am J Ment Defic. 1975 Mar;79(5):592-603.
Sexual development was evaluated in 9 female and 2 male subjects with Prader-Willi syndrome. The process of sexual development and degree of genital development attained were found to be variable but abnormal in all subjects. Hypothalamic-pituitary-gonadal functions were evaluated by measurement of serum Luteinizing Hormone and plasma testosterone responses to stimulation by clomiphene citrate and plasma testosterone responses to stimulation by human chorionic gonadotrophin. The degree of vaginal estrogenization was variable. The testicular biopsies showed abnormalities mainly in the germinal epithelium. In agreement with previous studies, it was concluded that the abnormalities of sexual development in this syndrome are mainly due to a defect in the hypothalamic pituitary axis. Adrenal function was not found to be grossly abnormal. The 17 ketosteroid excretion values were low, probably explaining the rather sparse pubic and axillary hair observed in these patients. The urinary 17-hydroxycorticosteroid creatinine ratios were found to be elevated, probably due to decreased creatinine excretion, reflecting the muscular abnormalities of these subjects.
对9名患有普拉德-威利综合征的女性和2名男性受试者的性发育情况进行了评估。结果发现，所有受试者的性发育过程和生殖器官发育程度各不相同，但均不正常。通过测量血清促黄体生成素、克罗米芬柠檬酸盐刺激后的血浆睾酮反应以及人绒毛膜促性腺激素刺激后的血浆睾酮反应，对下丘脑-垂体-性腺功能进行了评估。阴道雌激素化程度各不相同。睾丸活检显示主要在生精上皮存在异常。与先前的研究一致，得出结论，该综合征性发育异常主要是由于下丘脑-垂体轴缺陷所致。未发现肾上腺功能有明显异常。17-酮类固醇排泄值较低，这可能解释了在这些患者中观察到的阴毛和腋毛相当稀疏的现象。发现尿17-羟皮质类固醇与肌酐的比值升高，这可能是由于肌酐排泄减少所致，反映了这些受试者的肌肉异常情况。
