【摘 要】
：
背景：雄激素不敏感综合征(Androgen Insensitivity Syndrome,AIS)是46,XY性发育异常(Disorders of Sex Development,DSD)患儿最常见的病因,雄激素受体(Androgen Receptor,AR)基因突变是AIS的主要直接原因,了解AR基因突变情况可加深对AR热点突变的认知.方法：2011.1-2015.8在我院就诊并根据病史、查体、
【机 构】
：
首都医科大学附属北京儿童医院内分泌遗传代谢中心 首都儿科研究所附属医院内分泌科
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背景：雄激素不敏感综合征(Androgen Insensitivity Syndrome,AIS)是46,XY性发育异常(Disorders of Sex Development,DSD)患儿最常见的病因,雄激素受体(Androgen Receptor,AR)基因突变是AIS的主要直接原因,了解AR基因突变情况可加深对AR热点突变的认知.方法：2011.1-2015.8在我院就诊并根据病史、查体、激素检测、染色体核型分析及影像学检查结果,确诊为AIS患儿26例.分析患儿及其部分家属AR基因突变情况.结果：26例AIS患者共发现突变22个,10例携带5个相同突变(p.R841H、p.P914S、p.S176R、p.Y572S和p.Y782N),未报道突变1 1个. 7/26例家族史阳性. 11个已知突变中,仅1个为内含子4的第一位碱基替换导致的剪切突变：c.2173+1G＞T；余均为点突变,含1个已报道的第6外显子的新生突变：p.R775C. 2例病人具有相同第8外显子突变：p.P914S,患者均表现为CAIS,与报道的PAlS不符；其余临床分型与已经报道的分型一致.未报道突变中,点突变为8/11个,另有2个碱基缺失导致的移码突变：p.345fs和p.828_829del,1个碱基插入导致的移码突变：p.885fs,1例病人携带两个点突变：p.Y365C和p.E898D.突变由多至少在外显子的分布：外显子7有6例患者5个不同突变；外显子1、5和8分别有3例发现3个不同突变；外显子2、3、4和6各有2个不同突变.22个突变在功能区的分布情况：15个突变位于LBD,4个位于DBD,3个位于NTD.结论：本研究报道了不同AIS表型AR基因的不同突变谱,进一步丰富了AR数据库. p.R841H可能是亚洲人群的热点突变.基因型和表型的关系不明确,进一步证实可能存在转录后修饰或者辅助调节因素参与AIS发病或影响表型.
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