THREE SIBLINGS WITH ANDROGEN INSENSITIVITY SYNDROME.

Q3 Medicine Ethiopian Medical Journal Pub Date : 2016-10-01
Sisay Teklu, Jakob Schneider, Zewdu Terefework, Benadam Shimeles, Shemsu Abraham, Endalk Bonsa
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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.

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三个兄弟姐妹都有雄激素不敏感综合症。
遗传、性腺、表型和心理性别是个体性别分配的基础。基因组成紊乱、性激素不足或过度暴露以及与性激素受体有关的问题将导致外生殖器和内生殖器的异常发育。对内源性雄激素反应不佳,雄激素不敏感综合征是生殖器模糊和双性人的常见原因之一。在这个病例系列中,我们介绍了来自一个七名儿童家庭的三名女孩前往提库尔安bassa专科医院(TASH),主诉原发性闭经,并被诊断为雄激素不敏感综合征。本文对其临床表现、相关实验室和组织病理学检查、核型和遗传分析结果进行了总结。讨论了潜在的原因和治疗方案。
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来源期刊
Ethiopian Medical Journal
Ethiopian Medical Journal Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
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0
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.
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