Congenital absence of the vas deferens
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| Congenital absence of the vas deferens Classification and external resources |
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| ICD-10 | Q55.4 |
|---|---|
| ICD-9 | 752.8 |
| OMIM | 277180 |
| DiseasesDB | 34397 |
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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[edit] 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.
[edit] Causes
CAVD is associated with cystic fibrosis and occurs because of a mutation in the CFTR gene.[1][2] Mutation of the CFTR gene is found to result in obstructive azoospermia in postpubretal males with cystic fibrosis. Strikingly, CAVD is one of the most consistent features of cystic fibrosis as it affects 98-99% of individuals in this CF patient population. In contrast, acute or persistant respiratory symptoms present in only 51% total CF patients.[3]
[edit] Treatment
Individuals with CAVD can reproduce with the assistance of modern technology in a procedure known as intracytoplasmic sperm injection.
[edit] References
- ^ OMIM - VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD. Retrieved on 2007-10-23.
- ^ 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:. PMID 17413420.
- ^ Rosenstein BJ, Cutting GR (1998). "The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel". J Pediatr. 132 (4): 589–95. doi:. PMID 9580754.
[edit] External links
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