has material basis in germline mutation in NR5A1 hereditary disease reproductive system disorder NR5A1-related sex development disorder https://github.com/monarch-initiative/mondo/issues/9863 46XY individuals can present with azoospermia, hypospadias, micropenis, cryptorchidism, ambiguous or female-appearing genitalia, partial or complete gonadal dysgenesis, Sertoli dysfunction, and progressive testicular failure. Leydig function is often partially preserved, and infertility is common. 46XX individuals can present with primary ovarian insufficiency/ premature ovarian failure, ovarian dysgenesis, and subfertility. Rarely, testicular or ovotesticular disorder of sex development may occur. Individuals typically have normal adrenal function but in rare cases, adrenal insufficiency may be observed in the context of severe-early onset variants. A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female. MONDO:1060211 NR5A1-related sex development disorder