NR5A1 and disorder of sexual differentiation: To summarize, results from the above studies have identified a digenic or oligogenic disorder in DSD mainly by combining mutations in genes involved more frequently in gonadal development (NR5A1, MAP3K1, ZFPM2, GATA4, CHD7, HOXA13, and MAMLD1 combined with other gonadal development genes), followed by the AR gene combined with gonadal development genes and less frequently with steroidogenesis genes.