雄激素不敏感综合征(AIS)是X染色体上的雄激素受体(AR)基因缺失、突变导致AR功能障碍或缺失引起的雄激素作用减弱或消失,分为完全型AIS(CAIS)和部分型AIS(PALS)。研究报道AR点突变超过300个,25%发生在4个类固醇结合位点,即arg774-840,855和val866,如Arg840经常被cys,gly,ser和h Androgen insensitivity syndrome (AIS) is an absence of the androgen receptor (AR) gene on the X chromosome that results in diminished or disappearance of the androgen effect caused by AR dysfunction or loss and is classified as complete AIS (CAIS) and partial Type AIS (PALS). It has been reported that there are more than 300 mutations in AR and 25% occur in four steroid binding sites, namely arg774-840, 855 and val866. For example, Arg840 is often replaced by cys, gly, ser and h