Abstract:

The congenital bilateral absence of vas deferens (CBAVD) is a common cause of obstructive azoospermia, in which spermatogenesis is mostly normal. In addition to the common mutations of cystic fibrotic transmembrane conductance regulator (CFTR), the mutations and copy number variation of adhesion G protein-coupled receptor G2 (ADGRG2) are also considered to be the pathogenesis of CBAVD. We report a case of CBAVD with spermatogenesis failure. Besides the bilateral absence of vas deferens, testicular histopathology indicated sertoli cell only syndrome. Genetic analysis was then performed to determine the causes. However, whole exome sequencing did not show the pathogenic variation and/or copy number variation of CBAVD as well as other genes related to spermatogenesis failure. The exact cause of this case was still unclear. The coexistence of CBAVD and spermatogenesis failure indicated the complexity of genetic etiology of azoospermia.

Key words: Infertility,male, Congenital bilateral absence of vas deferens, Azoospermia, Spermatogenesis, Genetic techniques, Diagnosis, Case reports