Four of these polymorphisms in the NR5A1 locus that reside in the coding sequence of the 2–3 loop associate with clinical diseases (supplemental Table E), coding for A260V associated with 46,XX ovotesticular disorders of sex development (33), D257N associated with male infertility (34), R255L associated with adrenal insufficiency (35), and R255C associated with primary ovarian insufficiency (36). The gene discussed is NR5A1; the disease is 46,XX ovotesticular disorder of sex development.