Congenital bilateral absence of the vas deferens

Title

Other Names:

Congenital bilateral aplasia of vas deferens; CBAVD; CAVD

Categories:

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Male Reproductive Diseases

Summary Summary

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

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 7 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Absent vas deferens		0012873
Male infertility		0003251
Obstructive azoospermia		0011962
5%-29% of people have these symptoms
Abnormal renal morphology	Abnormally shaped kidney Kidney malformation Kidney structure issue Structural kidney abnormalities [ more ]	0012210
Oligospermia	Low sperm count	0000798
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Azoospermia	Absent sperm in semen	0000027

Showing of 7 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

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

Inheritance Inheritance

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

Diagnosis Diagnosis

GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we have provided a list of online resources that can assist you in locating a genetics professional near you.

Last updated: 12/22/2011

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Cystic Fibrosis Foundation
4550 Montgomery Ave.
Suite 1100 N
Bethesda, MD 20814
Toll-free: 800-FIGHTCF (800-344-4823)
Telephone: 301-951-4422
Fax: 301-951-6378
E-mail: info@cff.org
Website: http://www.cff.org
Cystic Fibrosis Research, Inc.
1731 Embarcadero Road, Suite 210
Palo Alto, CA 94303
Toll-free: 855-237-4669
Telephone: 650-665-7576
Fax: 650-561-4074
E-mail: cfri@cfri.org
Website: http://www.cfri.org
Resolve: The National Infertility Association
7918 Jones Branch Drive, Suite 300
McLean, VA 22102
Telephone: 703-556-7172
Fax: 703-506-3266
E-mail: info@resolve.org
Website: http://www.resolve.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Congenital bilateral absence of the vas deferens. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital bilateral absence of the vas deferens. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

If a man is diagnosed with CBAVD and is looking to father a child with his wife through in vitro fertilization, how important is it to find out if the CBAVD was caused by a mutation in the CFTR gene? How much of an increased risk is there to have a child with cystic fibrosis when CBAVD is caused by a CFTR mutation? See answer
Our 34-year-old son was diagnosed with congenital bilateral absence of the vas deferens (CBAVD) resulting from the CFTR mutation. We also have another 31-year-old son and are concerned that he might be affected as well. Is either myself or my husband a carrier? Should we seek medical advice regarding these possibilities? See answer

Have a question? Contact a GARD Information Specialist.