Heterozygous variants in the DHX37 gene have been reported in individuals with 46,XY gonadal dysgenesis and testicular regression.52, 53, 54 In addition, digenic inheritance of heterozygous DHX37 variants in combination with NR5A1/SF-1 variants has been previously reported in two individuals with 46,XY DSD.55 This evidence concerns the gene NR5A1 and disorder of sexual differentiation.