In hypospadias/CAVD patients, neither CFTR mutations nor other homozygous or compound heterozygous variants related to disorders of sex development (DSDs) or male infertility were identified by WES, but it is necessary to carry out a more detailed exploration to determine the possible pathogenesis in hypospadias/CAVD. This evidence concerns the gene CFTR and Genetic 46,XY disorder of sex development.