Congenital absence of the vas deferens

Congenital absence of the vas deferens (CAVD) is a condition in which the two vas deferens, male reproductive organs, fail to form properly prior to birth.

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Presentation

The vas deferens helps connect the sperm-producing testicles to the penis. Therefore, men who are missing both vas deferens are typically able to create sperm but are unable to transport them appropriately. Their semen does not contain sperm, a condition known as azoospermia.

Causes

CAVD is associated with cystic fibrosis and occurs because of a mutation in the CFTR gene. ^[1][2]

Treatment

Individuals with CAVD can reproduce with the assistance of modern technology in a procedure known as intracytoplasmic sperm injection.

References

1. ^ OMIM - VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD. Retrieved on 2007-10-23.
2. ^ Grangeia A, Sá R, Carvalho F, et al (2007). "Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens". Genet. Med. 9 (3): 163–72. doi:10.1097/GIM.0b013e3180318aaf. PMID 17413420.