男性假雌雄同体的兄弟姐妹睾丸发育不良和智力低下

Adolescent and pediatric gynecology Pub Date : 1995-06-01 DOI:10.1016/S0932-8610(19)80005-1

M.A. Vardar M.D. , H. Zeren M.D. , C. Demir M.D. , C. Evrüke M.D. , N. Özpoyraz M.D. , O. Kadayifçi M.D. , A. Altintaş M.D. , S. Zorludemir M.D.

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摘要

描述了两个精神残疾表现型女性，46岁，XY来自近亲婚姻的性腺障碍姐妹。血浆睾酮水平低，血浆睾酮对人绒毛膜促性腺激素(hCG)刺激反应不足。在剖腹探查术中发现发育不良的睾丸和残余的勒氏管和沃尔夫管。两例患者均有轻度智力迟钝。这些数据可能提示遗传因素在睾丸发育不良的病因学中的特殊作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Testicular dysgenesis and mental retardation in two siblings with male pseudohermaphroditism

Two mentally disabled phenotypic females, 46,XY dysgonadal sisters from a consanguineous marriage are described. Low plasma testosterone levels and an inadequate response of plasma-testosterone to human chorionic gonadotrophin (hCG) stimulation were noted in both cases. Dysgenetic testes and remnants of the müllerian and wolffian ducts were identified at exploratory laparotomy. Mild mental retardation was also present in both cases. These data may suggest the specific role of genetic factors in the etiology of testicular dysgenesis.

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