Interestingly, in P6, co-existence of SRD5A2 (p.F229S; this study and a previous study [5]) and NR3C4 (p.G743E and a previous study [22]) gene mutations or nsSNVs may explain the incomplete regression of the Müllerian duct development and the complete androgen insensitivity syndrome (CAIS) phenotype with a 46,XY male karyotype. The gene discussed is AR; the disease is androgen insensitivity syndrome.