In fact, this study detected a high proportion of monogenic 46,XY DSD causes (SRD5A2 and AR genes, with several mutations previously detected in the Han Chinese population), while no gene variants were detected in other candidate genes frequently found in other 46,XY DSD series such as NR5A1 and MAMLD1 [5,39,40]. This evidence concerns the gene MAMLD1 and disorder of sexual differentiation.