Notably, the p.Arg92Trp variant of NR5A1 was shared by a patient with 46,XX testicular DSD and his sister, who had a 46,XY karyotype associated with partial gonadal dysgenesis characterized by mild clitoromegaly, labial fusion, and gonads in the inguinal region. This evidence concerns the gene NR5A1 and disorder of sexual differentiation.