Multiple genetic variants have been linked to 46, XX testicular or ovotesticular DSD, including RSPO1 [10, 11], WNT4 [12], NR5A1 [13, 14], NRF2 [15, 16], WT1 [17, 18], SOX3 [19], SOX9 [20, 21], and SOX10 [22]. Here, SOX9 is linked to disorder of sexual differentiation.