Five novel or rare heterozygous LP variants were identified in CHD7 gene in 7 cases (DSD cases 25,41, 45, 62, 75, 97, and 112) and in the PROKR2 gene 2 rare and LP variants were carried by 8 cases (DSD cases 29, 45, 57, 62, 66, 67, 87, and 102). This evidence concerns the gene PROKR2 and disorder of sexual differentiation.