Pathogenic variants in NR5A1 associated with a broad range phenotype include male infertility, hypospadias, and testicular dysgenesis in 46,XY individuals, primary ovarian insufficiency and ovotesticular DSD in 46, XX individuals.[3] Here we reported a case about pathogenic variants in NR5A1 associated with 46,XY gonadal dysgenesis. This evidence concerns the gene NR5A1 and disorder of sexual differentiation.