Congenital bilateral absence of vas deferens

Definition:

The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. In 80% of patients with CBAVD, mutations are identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, mutations in ADGRG2 gene have been identified.

References:

[1]. Harry Cuppens, et al. CFTR mutations and polymorphisms in male infertility. Int J Androl. 2004 Oct;27(5):251-6. [Content Brief]

[2]. Olivier Patat, et al. Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. Am J Hum Genet. 2016 Aug 4;99(2):437-42. [Content Brief]

[3]. R Gervais, et al. High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med. 1993 Feb 11;328(6):446-7. [Content Brief]

[4]. W Lissens, et al. Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. Hum Reprod. 1996 Dec;11 Suppl 4:55-78; discussion 79-80. [Content Brief]

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