Both the five 46,XX testicular (SRY-negative) patients and the single 46,XX ovotesticular patient with DSD (Fig. 1) were first analyzed by MLPA for the presence of copy number imbalances affecting SOX9, NR0B1, NR5A1, SRY, CYP21A2,and WNT4 genes. This evidence concerns the gene NR5A1 and disorder of sexual differentiation.