A male with a severe 46,XY DSD phenotype (index case 13, Table 3, Fig. 3, Fig. 5d) inherited a heterozygous NR5A1/SF-1 variant (c.40C > T, p.Pro14Ser) from his mother, who underwent ovarian stimulation for conception, and previously had three miscarriages. This evidence concerns the gene SF1 and disorder of sexual differentiation.