Known genetic variants associated with 46,XX testicular/ovotesticular DSD include SRY translocations [4,5]; copy number variants involving FGF9, NR0B1, NR2F2, SOX3, SOX9, SOX10, and SPRY2 [4,7,8,9,10]; and sequence variants in NR2F2, NR5A1, RSPO1, SOX9, WNT2B, WNT4, and WT1 [4,5,11,12,13,14,15,16]. This evidence concerns the gene NR5A1 and disorder of sexual differentiation.