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

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

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Genetic mutation analysis of 22 patients with congenital absence of vas deferens: A single-center study

Biology of Reproduction ◽

10.1093/biolre/ioab194 ◽

2021 ◽

Author(s):

Mao-Qing Tan ◽

Wu-Jian Huang ◽

Feng-Hua Lan ◽

Yong-Jun Xu ◽

Mei-Yu Zheng ◽

...

Keyword(s):

Vas Deferens ◽

Bioinformatic Analysis ◽

Genetic Mutation ◽

Congenital Absence ◽

Chinese Patients ◽

Obstructive Azoospermia ◽

Missense Mutations ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

Single Center Study

Abstract Congenital absence of the vas deferens (CAVD), a congenital malformation of the male reproductive system, causes obstructive azoospermia and male infertility. Currently, the cystic fibrosis transmembrane conductance regulator (CFTR) has been recognized as the main pathogenic gene in CAVD, with some other genes, such as adhesion G-protein coupled receptor G2 (ADGRG2), solute carrier family 9 isoform 3 (SLC9A3), sodium channel epithelial 1 subunit beta (SCNN1B), and carbonic anhydrase 12 (CA12) being candidate genes in the pathogenesis of CAVD. However, the frequency and spectrum of these mutations, as well as the pathogenic mechanisms of CAVD, have not been fully investigated. Here, we sequenced all genes with potentially pathogenic mutations using next-generation sequencing and verified all identified variants by Sanger sequencing. Further bioinformatic analysis was performed to predict the pathogenicity of mutations. We described the distribution of the p.V470M, poly-T, and TG-repeat CFTR polymorphisms, and identified novel missense mutations in the CFTR and SLC9A3 genes, respectively. Taken together, we identified mutations in the CFTR, ADGRG2, SLC9A3, SCNN1B, and CA12 genes in 22 patients with CAVD, thus broadening the genetic spectrum of Chinese patients with CAVD.

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