O. Ozdemır, M. Sarı, Evren Akmut, Gizem Ozcanli, C. Atalay
{"title":"COMPLETE ANDROGEN INSENSITIVITY SYNDROME IN THREE SISTERS: A CASE REPORT","authors":"O. Ozdemır, M. Sarı, Evren Akmut, Gizem Ozcanli, C. Atalay","doi":"10.4274/TJOD.58235","DOIUrl":null,"url":null,"abstract":"SUMMARY Complete androgen insensitivity syndrome (CAIS) (testicular feminization) is the most common cause of male pseudohermaphroditism. The underlying main pathology is an end organ resistance to androgen stimulation, and as a result, this impairs the differentiation of the body structures and systems which this hormone affects. Inheritance of this disorder is by means of an X-linked recessive gene that is responsible for the intracellular androgen receptors. CAIS may be observed in several members of a family. For this reason, the family members of the affected individual should be screened. In this article we present a case of three sisters diagnosed with CAIS after investigating the pedigree of one of them owing to an inguinal mass and diagnosing with CAIS.","PeriodicalId":174635,"journal":{"name":"Journal of Turkish Society of Obstetric and Gynecology","volume":"26 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2014-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Turkish Society of Obstetric and Gynecology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/TJOD.58235","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
SUMMARY Complete androgen insensitivity syndrome (CAIS) (testicular feminization) is the most common cause of male pseudohermaphroditism. The underlying main pathology is an end organ resistance to androgen stimulation, and as a result, this impairs the differentiation of the body structures and systems which this hormone affects. Inheritance of this disorder is by means of an X-linked recessive gene that is responsible for the intracellular androgen receptors. CAIS may be observed in several members of a family. For this reason, the family members of the affected individual should be screened. In this article we present a case of three sisters diagnosed with CAIS after investigating the pedigree of one of them owing to an inguinal mass and diagnosing with CAIS.