In a previous study, KCTD13 CNV with deletion and duplication was observed to be associated with clinical cases of upper and lower tract genitourinary (GU) anomalies, including more than hypospadias, in the American population, and its changes in gene dosage could result in penile and testicular anomalies via diminished androgen receptor (AR) function (14). This evidence concerns the gene KCTD13 and hypospadias.