NR5A1 and female infertility: For Fam5-1, the revelation of a splicing variant in NR5A1 in 6 of 8 sequenced individuals (Fig. 3), where the initial diagnosis only identified 2 individuals with 46, XY sex reversal, not only resolved the confusion surrounding the varied symptoms (female infertility, male sterility, 46,XY sex reversal, etc.,) arising in this family but also incidentally unearthed two subtle patients with not so obvious symptoms of early menopause which in turn emphasized their need to pursue prenatal screening for healthy progeny although they seems normal.