An emerging body of evidence suggests that DSD and infertility can have common aetiologies,For example, mutations involving NR5A1 (SF-1), a key player in many aspects of reproductivefunction including sex determination, are associated not only with a spectrum of DSD such as46, XY CGD, 46, XY undervirilised males with testes, or 46, XX (ovo)testicular DSD but alsomore prevalent forms of human infertility, i.e. 46, XY men with spermatogenic failure and46, XX women with primary ovarian insufficiency (POI) (11–14). Here, SF1 is linked to Infertility.