Congenital bilateral absence of the vas deferens (CBAVD) is a congenital malformation of the male reproductive system and one of the important causes of obstructive azoospermia and male infertility. It is currently recognized that the main cause of CBAVD is the mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR). And the mutations of adhesion G protein-coupled receptor G2 (ADGRG2), solute carrier family 9 isoform 3 (SLC9A3) and other genes are also found to be involved in the development and progression of CBAVD. A reasonable CBAVD molecular diagnosis process combined with assisted reproductive technology is currently the most effective method for the diagnosis and treatment of CBAVD, but the offspring of the patient may face the risk of hereditary inheritance. This article focuses on the pathogenesis of CFTR, ADGRG2 and SLC9A3 causing CBAVD, and aims to provide some new ideas for the clinical diagnosis and treatment of CBAVD and CBAVD-related genetic counseling.
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