NR5A1 and disorder of sexual differentiation: Subsequently, it was shown that NR5A1 mutations are also a genetic cause of POI, with phenotypes ranging from primary to secondary amenorrhea, associated with infertility, hypoestrogenism, and elevated gonadotropin levels (Lourenço et al., 2009; Camats et al., 2012) Sisters and mothers of 46,XY DSD patients carrying heterozygous NR5A1 mutations may also develop premature ovarian failure (Lourenço et al., 2009; Camats et al., 2012; Fabbri et al., 2016).