{"title":"THREE SIBLINGS WITH ANDROGEN INSENSITIVITY SYNDROME.","authors":"Sisay Teklu, Jakob Schneider, Zewdu Terefework, Benadam Shimeles, Shemsu Abraham, Endalk Bonsa","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement\nin genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors\nwill lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous\nandrogen, Androgen Insensitivity Syndrome is one of the common causes of genital ambiguity and intersex.\nIn this case series we have presented three girls from a family of seven children visited Tikur Anbassa Specialized\nHospital (TASH) with a complaint of primary amenorrhea and diagnosed to have androgen insensitivity syndrome.\nTheir clinical presentation, relevant laboratory and histopathologic findings, karyotype and genetic analysis\nresults are summarized. Potential causes and treatment options are discussed.</p>","PeriodicalId":11937,"journal":{"name":"Ethiopian Medical Journal","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2016-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ethiopian Medical Journal","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement
in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors
will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous
androgen, Androgen Insensitivity Syndrome is one of the common causes of genital ambiguity and intersex.
In this case series we have presented three girls from a family of seven children visited Tikur Anbassa Specialized
Hospital (TASH) with a complaint of primary amenorrhea and diagnosed to have androgen insensitivity syndrome.
Their clinical presentation, relevant laboratory and histopathologic findings, karyotype and genetic analysis
results are summarized. Potential causes and treatment options are discussed.
期刊介绍:
The Ethiopian Medical Journal (EMJ) is the official Journal of the Ethiopian Medical Association (EMA) and devoted to the advancement and dissemination of knowledge pertaining to the broad field of medicine in Ethiopia and other developing countries. Prospective contributors to the Journal should take note of the instructions of Manuscript preparation and submission to EMJ as outlined below.