DHX37 is one the most highly conserved genes in the human genome and is intolerant to loss-of-function and missense variants in the general population.28 Fisher’s exact test (two-tailed) on the frequency of loss-of-function and missense variants observed in our 46,XY DSD cohort, compared with rare (MAF < 0.01%) missense variants in the DHX37 gene from 32,500 control individuals of matched-ancestry (ExAC database), shows a highly significant enrichment of rare missense variant in the DHX37 gene in the overall DSD cohort (P value = 5.8 × 10−10). Here, DHX37 is linked to disorder of sexual differentiation.