With the advancement of genetic analysis, genome-wide association studies (GWAS) have identified several gene loci such as ladybird homeobox 1 (LBX1) (41, 42), basonuclin 2 (BNC2) (43), and fibrillin (FBN1 and FBN2) (44, 45), which are associated with the pathogenesis of AIS. Here, FBN1 is linked to androgen insensitivity syndrome.