Of the five patients with hypospadias, three were found to have a likely pathogenic variant in a testis development gene (MAP3K1 and ZFPM2) in combination with a VUS in an additional DSD gene, while one patient had two pathogenic variants, one in a DASA gene (HSD3B2) and the other in a congenital hypogonadotropic hypogonadism (CHH) gene (GNRHR). This evidence concerns the gene GNRHR and cartilage-hair hypoplasia.