In sex development, digenic inheritance has recently been suggested by WES analysis in a 46,XY DSD patient with gonadal dysgenesis (NR5A1 and MAP3K1 variants) [7] and in a family with a 46,XY DSD male (NR5A1 variant) and 46,XY DSD female (NR5A1 and TBX2 variants) [8] (Table 1). Here, MAP3K1 is linked to disorder of sexual differentiation.