Known causative genes for 46,XY DSD include ATRX, CBX2, DHH, DMRT1, GATA4, MAP3K1, NR0B1 (alias DAX1), NR5A1 (alias SF1), RSPO1, SOX9, SRY, WNT4, and WT1 involved in testicular development; AKR1C2/4, AR, CYP11A1, CYP17A1, LHCGR, HSD3B2, HSD17B3, POR, SRD5A2, and STAR involved in androgen production or function; and AMH, AMHR2, INSL3, RXFP2, and the HOXD cluster involved in genital organ formation [1,3,4]. This evidence concerns the gene NR0B1 and disorder of sexual differentiation.