E. Cardamakis M.D., G. Creatsas M.D., FACS, E. Deligeoroglou M.D., D. Aravantinos M.D.
{"title":"XY pure gonadal (testicular) dysgenesis: Brief report of a familial case","authors":"E. Cardamakis M.D., G. Creatsas M.D., FACS, E. Deligeoroglou M.D., D. Aravantinos M.D.","doi":"10.1016/S0932-8610(12)80176-9","DOIUrl":null,"url":null,"abstract":"<div><p>Three sisters were found to have pure gonadal dysgenesis. The diagnosis was confirmed by the finding of streak gonads and biopsy during laparotomy. Cytogenetic studies in a number of different tissues showed a normal male (46,XY) karyotype, none of which revealed signs of Turner syndrome. Histologically, no evidence of testicular differentiation was seen in any of the streak gonads examined. Hormonal studies, carried out in all three sisters, indicated elevated serum gonadotropin levels with normal female testosterone levels. Transmission of this disorder of testicular development by genes on the X chromosome or an autosome, as described in other genetic disorders of male development, is the most likely mode of inheritance.</p></div>","PeriodicalId":80358,"journal":{"name":"Adolescent and pediatric gynecology","volume":"7 1","pages":"Pages 34-37"},"PeriodicalIF":0.0000,"publicationDate":"1994-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0932-8610(12)80176-9","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Adolescent and pediatric gynecology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0932861012801769","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
Three sisters were found to have pure gonadal dysgenesis. The diagnosis was confirmed by the finding of streak gonads and biopsy during laparotomy. Cytogenetic studies in a number of different tissues showed a normal male (46,XY) karyotype, none of which revealed signs of Turner syndrome. Histologically, no evidence of testicular differentiation was seen in any of the streak gonads examined. Hormonal studies, carried out in all three sisters, indicated elevated serum gonadotropin levels with normal female testosterone levels. Transmission of this disorder of testicular development by genes on the X chromosome or an autosome, as described in other genetic disorders of male development, is the most likely mode of inheritance.
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