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雄激素不敏感综合征与共激活因子疾病

[Androgen insensitivity syndrome and co-activator disease].

作者信息

Tanaka Kimitaka, Nomura Masatoshi, Nawata Hajime

机构信息

Department of Medicine, Graduate School of Medical Sciences, Kyusyu University.

出版信息

Nihon Rinsho. 2004 Feb;62(2):344-50.

Abstract

Androgen insensitivity syndrome(AIS) is a clinical continuum of virilization disorders in XY males. Almost AIS is due to mutations in androgen receptor(AR) gene. Over 300 mutations in the AR gene have been reported. In addition, we have reported the case of complete AIS who has no mutations in AR gene, caused by co-activator abnormality. The recent advances in live-cell imaging techniques have developed a novel concept in AIS.

摘要

雄激素不敏感综合征(AIS)是XY男性中一系列男性化障碍的临床统称。几乎所有的AIS都是由雄激素受体(AR)基因突变引起的。已报道的AR基因有300多种突变。此外,我们还报道了一例完全性AIS患者,其AR基因无突变,而是由共激活因子异常所致。活细胞成像技术的最新进展为AIS带来了新的概念。

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