[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].

<i>CFTR</i> gene mutations remain the leading cause of CBAVD in Chinese patients; however, the distribution and frequency of mutations differ from data reported in other domestic and international studies, highlighting the need to expand the <i>CFTR</i> mutation spectrum in Chinese CBAVD patients. The susceptibility genes <i>ADGRG2</i>, <i>SLC9A3</i>, <i>SCNN1B</i>, and <i>CA12</i> may explain some cases of CBAVD without <i>CFTR</i> mutations. Given the lack of specific clinical manifestations in CBAVD patients, it is recommended that clinicians conduct further physical examinations and consider scrotal or transrectal ultrasound before making a defi-nitive diagnosis. It is advisable to employ <i>CFTR</i> gene mutation testing in preconception genetic screening to reduce the risk of CBAVD and cystic fibrosis in offspring.