Prevalence of congenital absence of vas deferens and related genetic factors among male infertilities: A systematic review

Abstract

A systematic review was conducted to describe the prevalence of congenital absence of vas deferens (CAVD) and types of cystic fbrosis transmembrane conductance regulator (CFTR) gene mutation, Adhesion G-protein coupled receptor G2 (ADGRG2) mutation leading to CAVD among male infertilities aimed at providing comprehensive counseling in the treatment of male infertility. Information and data from eligible publications were searched and selected from the PubMed and Medline e-library from 2010 to 2020 by using 8 main keywords. The results showed that the prevalence of CAVD was approximately 0.1% in male and about 80% of congenital bilateral absences of the vas deferens (CABVD) patients had the CFTR mutation. These mutations were recessive gene abnormalities on the long arm of chromosome 7. Besides the mutation, recent researches showed the mutation of the ADGRG2 gene on X chromosome also led to CBAVD. It was approximately 10 - 20% of CBAVD and 60 - 70% of the congenital unilateral absence of the vas deferens (CUAVD) that was still not diagnosed genetically. In conclusion, the genetic consultation is necessary for CAVD patients before deciding to have a baby