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.
{"title":"男性假雌雄同体的兄弟姐妹睾丸发育不良和智力低下","authors":"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.","doi":"10.1016/S0932-8610(19)80005-1","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":80358,"journal":{"name":"Adolescent and pediatric gynecology","volume":"8 3","pages":"Pages 132-134"},"PeriodicalIF":0.0000,"publicationDate":"1995-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0932-8610(19)80005-1","citationCount":"0","resultStr":"{\"title\":\"Testicular dysgenesis and mental retardation in two siblings with male pseudohermaphroditism\",\"authors\":\"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.\",\"doi\":\"10.1016/S0932-8610(19)80005-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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.</p></div>\",\"PeriodicalId\":80358,\"journal\":{\"name\":\"Adolescent and pediatric gynecology\",\"volume\":\"8 3\",\"pages\":\"Pages 132-134\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1995-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S0932-8610(19)80005-1\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Adolescent and pediatric gynecology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0932861019800051\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Adolescent and pediatric gynecology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0932861019800051","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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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