Studies have shown that over 1100 different AR pathogenic variants have been registered in the database species, including deletions, duplications, insertions, missense (the most common), and nonsense variants [21].Here, we identified ten patients carrying AR variant and one patient carrying DHX37 variant, combined with clinical phenotype, consistent with the diagnosis of AIS(OMIM:312300), which included 1 patient with PAIS presented with ambiguous genitalia and 10 patients with CAIS presented with complete female phenotype. The gene discussed is AR; the disease is androgen insensitivity syndrome.