However, it has emerged in the past 15 years that variants in SF-1/NR5A1 are one of the most common causes of 46,XY DSD, with phenotypes ranging from a complete gonadal dysgenesis scenario through various degrees of virilization and hypospadias to male factor infertility [10, 11, 22, 49]. The gene discussed is SF1; the disease is disorder of sexual differentiation.