Androgen insensitivity syndrome
Androgen insensitivity syndrome
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DOI：
10.26355/eurrev_201806_15272
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发表时间：
2018-06-01
影响因子：
3.3
通讯作者：
Piergentili, R.
中科院分区：
文献类型：
--
作者：
Gulia, C.;Baldassarra, S.;Piergentili, R.
目的：我们提供了一个关于雄激素不敏感综合征（AIS）的文献综述，其发病和相关的发育异常和遗传改变引起it.MATERIALS和METHODS：我们搜索PubMed的生理学，遗传学和目前的管理AIS.RESULTS：AIS是一个X连锁隐性性发育障碍（DSD）。它是由雄激素受体突变引起的，它们的大量和异质性（错义和无义突变、剪接变体、缺失和插入）是导致患者广泛可能表型的原因，分为部分AIS（PAIS）和完全AIS（CAIS）。一旦临床和实验室研究为诊断假设奠定了基础，重要的是要确定个体的实际核型，并寻找雄激素受体的突变，以确定诊断综合征。或者，在没有这样的证据，诊断应该更恰当地是一个AIS样的条件，我们描述以及在我们的report.CONCLUSIONS：这个DSD的管理是基于药物治疗，手术和心理支持：所有这些都必须直接促进病人的生活，考虑到他/她的性别身份。
OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it.MATERIALS AND METHODS: We searched PubMed with a larger emphasis on the physiology, genetics and current management of AIS.RESULTS: AIS is an X-linked recessive Disorder of Sex Development (DSD). It is caused by mutations of the Androgen Receptor, and their large amount and heterogeneity (missense and nonsense mutations, splicing variants, deletions, and insertions) are responsible for the wide spectrum of possible phenotypes of patients, divided into Partial AIS (PAIS) and Complete AIS (CAIS). Once the clinical and laboratory investigations have laid the foundation for a diagnostic hypothesis, it is important to identify the actual karyotype of the individual and search for the mutation in the Androgen Receptor to diagnose with certainty the syndrome. Alternatively, in the absence of such evidence, the diagnosis should more properly be an AIS-like condition, which we describe as well in our report.CONCLUSIONS: The management of this DSD is based on pharmacotherapies, surgery and psychological support: all of them must be directed to facilitate the patient's life, considering his/her sexual identity.