In familial cases with 46,XY DSD and 46,XX POF, a heterozygous NR5A1 mutation could be inherited from a 46,XX mother either with POF or apparently normal ovarian function, to the 46,XY DSD offspring in a sex-limited dominant manner, which was kind of similar to X-linked inheritance [18], [19], [31], [32] (Table 3). The gene discussed is NR5A1; the disease is disorder of sexual differentiation.