Definition:
Congenital absence of the vas deferens (CAVD) or congenital bilateral aplasia of vas deferens is a condition in which both vas deferens, fail to form properly prior to birth.
Symptoms and Signs:
Men who are missing both vas deferens suffer from a condition known as azzospermia. Meaning, they are able to create sperm but are unable to transport them appropriately; and their semen do not contain any sperm.
Causes:
Congenital bilateral aplasia of vas deferens is associated with cystic fibrosis and occurs because of a mutation in the CFTR gene. The mutation results in obstructive azoospermia in postpubretal males with cystic fibrosis. CAVD is also one of the most consistent features of cystic fibrosis as it affects 98-99% of individuals in the CF patient population. Acute or persistent respiratory symptoms in contrast are present in only 51% total CF patients.
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