Many of the genetic variants in DSD encode transcription factors such as SRY, SOX9, NR5A1, and FOXL2 and it can be hypothesised that, at least part of the missing genetic variation in severe forms of DSD, can be explained by non-coding variants in regulatory elements (52) that could be detected by WGS. The gene discussed is NR5A1; the disease is disorder of sexual differentiation.