The genetic association of POC5 with AIS derives from the findings that POC5 mutants appear to have a higher prevalence in AIS patients compared to the general population (Mathieu et al., 2021a) and that the candidate region (9q31.2-q34.2) containing the POC5 gene has also been identified by linkage analysis in AIS (Miller et al., 2012). This evidence concerns the gene POC5 and androgen insensitivity syndrome.