NR5A1 and Premature ovarian insufficiency: Human variations in NR5A1 have been widely characterized in 46,XY DSDs (gonadal dysgenesis, hypospadias, undervirilization, and male infertility; Robevska et al., 2018; Ropke et al., 2013) and 46,XX primary ovarian insufficiency (Voican et al., 2013) and commonly show variable phenotypic expressivity and incomplete penetrance.