Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor

摘要

Most individuals with androgen insensitivity syndrome (AIS) carry germline mutations of the androgen receptor (AR) that interfere with or ablate its function. As genital fibroblasts retain expression of the AR in vitro, genital skin fibroblasts from normal males and 46,XY females with complete AIS due to known AR mutations were analysed using microarrays to gain insights into the role of the AR in human genital differentiation.