Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.

Hui ZhuHaijun YaoYue XuYan ChenBing HanNan WangHao WangQiang ZhangWenjiao ZhuYuanping ShiHua SunShuangxia ZhaoHuaidong SongYang LiuJie Qiao

Published in: Orphanet journal of rare diseases (2021)

Compared with PAIS patients, postpubertal CAIS patients had higher gonadotropin levels. Arg841 was disclosed as the location of recurrent mutations in Chinese AIS patients. Functional assays are important for reclassifying the novel AR variants and re-examining the diagnosis of AIS in specific patients with oligogenic mutations, instead of in-silico analysis.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
gene expression
copy number
patient reported outcomes
high throughput