Congenital absence of the vas deferens 5137886 215581751 2008-05-28T20:51:40Z DOI bot 6652755 Citation maintenance. You can [[WP:DOI|use this bot]] yourself! Please [[User:DOI_bot/bugs|report any bugs]]. {{Infobox_Disease | Name = Congenital absence of the vas deferens | Image = | Caption = | DiseasesDB = 34397 | ICD10 = {{ICD10|Q|55|4|q|50}} | ICD9 = {{ICD9|752.8}} | ICDO = | OMIM = 277180 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | }} '''Congenital absence of the vas deferens''' ('''CAVD''') is a condition in which the two [[vas deferens]], male [[sex organ|reproductive]] [[Organ (anatomy)|organ]]s, fail to form properly [[Embryogenesis|prior to birth]]. ==Presentation== The vas deferens helps connect the [[spermatozoon|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 [[Cystic fibrosis transmembrane conductance regulator|CFTR gene]].<ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277180 |title=OMIM - VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD |accessdate=2007-10-23 |format= |work=}}</ref><ref name="pmid17413420">{{cite journal |author=Grangeia A, Sá R, Carvalho F, ''et al'' |title=Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens |journal=Genet. Med. |volume=9 |issue=3 |pages=163–72 |year=2007 |pmid=17413420 |doi=10.1097/GIM.0b013e3180318aaf}}</ref> 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.<ref name="pmid9580754">{{cite journal |author= Rosenstein BJ, Cutting GR |title=The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel |journal=J Pediatr. |volume=132 |issue=4 |pages=589–95 |year=1998 |pmid=9580754 |doi=10.1016/S0022-3476(98)70344-0}}</ref> ==Treatment== Individuals with CAVD can reproduce with the assistance of modern technology in a procedure known as [[intracytoplasmic sperm injection]]. ==References== <references/> ==External links== * http://ghr.nlm.nih.gov/condition=congenitalbilateralabsenceofthevasdeferens {{Congenital malformations of genital organs and urinary system}} [[Category:Congenital disorders]] [[de:Kongenitale bilaterale Aplasie des Vas deferens]] [[pl:Wrodzony brak nasieniowodów]]