According to Köhler et al. [62], patients with 46,XY disorders of sex development (DSD) with WT1 variants identified by histological analysis of gonadal tissue showed a large spectrum of development, ranging from normal testes to varying degrees of gonadal dysgenesis, but patients with WT1 pathogenic variants lacked a clear genotype–phenotype correlation. Here, WT1 is linked to Genetic 46,XY disorder of sex development.