Patient DNA was run on our custom multiplex ligation‐dependent probe amplification (MLPA) assay (previously described in Ohnesorg et al., 2017), which screens 10 genes implicated in DSD for copy number variants, including four probes in the enhancer region of SOX9. The MLPA showed that Patients 1–4 are negative for common copy number variants in known DSD genes. Here, SOX9 is linked to disorder of sexual differentiation.