Moreover, 29.8% (31/104) of patients had no associated gene variants such as CFTR, ADGRG2, PANK2, SLC9A3, SCNN1B and CA12, suggesting that there may be unknown gene variants or pathogenic mechanism in CAVD, which need to be further studied. This evidence concerns the gene SLC9A3 and congenital bilateral aplasia of vas deferens from CFTR mutation.