In a study of Leitao Braga et al. that included 46 individuals with hypospadias from a large cohort of 46,XY DSD patients, there were 5 individuals with specific genetic syndromes: 3 with mutations specific to Silver-Russell syndrome and 2 de novo pathogenic variants in a compound heterozygous state were identified in the CUL7 gene, establishing the diagnosis of 3M syndrome in one patient, and a novel homozygous variant in TRIM37 was identified in another boy with Mulibrey nanism phenotype [31]. Here, CUL7 is linked to disorder of sexual differentiation.