The p.Arg313Cys SF-1 variant has been reported in heterozygous state in five other patients: three males with a less severe DSD phenotype (glandular/scrotal hypospadias with or without microphallus)70, 71, 72 than observed in our case; one female with 46,XY gonadal dysgenesis,73 and in model case 3 (Fig. 5C). Here, SF1 is linked to gonadal dysgenesis.