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Genetic and Rare Diseases Information Center (GARD)

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Congenital bilateral absence of the vas deferens


Other Names for this Disease

  • CAVD
  • CBAVD
  • Congenital bilateral aplasia of vas deferens
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is congenital bilateral absence of the vas deferens (CBAVD)?

What causes congenital bilateral absence of the vas deferens (CBAVD)?

How is congenital bilateral absence of the vas deferens (CBAVD) inherited?

What is congenital bilateral absence of the vas deferens (CBAVD)?

Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.[1]
Last updated: 12/22/2011

What causes congenital bilateral absence of the vas deferens (CBAVD)?

More than half of all men with CBAVD have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When CBAVD occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. In instances of CBAVD without a mutation in the CFTR gene, the cause of this condition is often unknown. Some cases are associated with other structural problems of the urinary tract.[1]
Last updated: 12/22/2011

How is congenital bilateral absence of the vas deferens (CBAVD) inherited?

When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carry one CFTR mutation, but are usually unaffected (carriers). Men with CBAVD who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased.[1]

The risk to siblings of a person with CBAVD depends on the affected person's CFTR gene mutation(s) and cannot readily be predicted without this information. Genetic testing is most informative when the CBAVD-causing mutations have been identified in the affected individual. Men with CBAVD sometimes have only one identifiable CFTR mutation, complicating the testing and interpretation of results in their family members.[2] We recommend speaking with a genetics professional about risk to other family members as well as any appropriate genetic testing.
Last updated: 12/22/2011

References
  1. Congenital bilateral absence of the vas deferens. Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-deferens. Accessed 12/22/2011.
  2. Moskowitz SM et al.. CFTR-Related Disorders. GeneReviews. February 2008; http://www.ncbi.nlm.nih.gov/books/NBK1250/#cf.Genetic_Counseling. Accessed 12/22/2011.


Other Names for this Disease
  • CAVD
  • CBAVD
  • Congenital bilateral aplasia of vas deferens
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.