SRY and disorder of sexual differentiation: From a cohort of 44 DSD patients we identified two further duplications mapping to 17q24.3 in two unrelated 46,XX DSD patients lacking SRY. Patient 1 (46,XX testicular DSD) carries a 23.9 kb duplication, while Patient 2 (46,XX ovotesticular DSD) carries a 24.2 kb duplication (Fig. 1b and Supplementary Figure 1).