Congenital absence of the vas deferens: Difference between revisions
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==Causes== |
==Causes== |
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There are two main populations of CAVD; the larger group is associated with |
There are two main populations of CAVD; the larger group is associated with |
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[[cystic fibrosis]] and occurs because of a mutation in the [[Cystic fibrosis transmembrane conductance regulator|CFTR gene]],<ref>{{OMIM|277180|VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD}}</ref><ref name="pmid17413420">{{cite journal |author=Grangeia A |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 |name-list-format=vanc|author2=Sá R |author3=Carvalho F |display-authors=3 |last4=Martin |first4=Josiane |last5=Girodon |first5=Emmanuelle |last6=Silva |first6=Joaquina |last7=Ferr??z |first7=Lu??s |last8=Barros |first8=Alberto |last9=Sousa |first9=M??rio|doi-access=free }}</ref> while the smaller group (estimated between 10 and 40%) is associated with Unilateral [[Renal agenesis]] (URA). The |
[[cystic fibrosis]] and occurs because of a mutation in the [[Cystic fibrosis transmembrane conductance regulator|CFTR gene]],<ref>{{OMIM|277180|VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD}}</ref><ref name="pmid17413420">{{cite journal |author=Grangeia A |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 |name-list-format=vanc|author2=Sá R |author3=Carvalho F |display-authors=3 |last4=Martin |first4=Josiane |last5=Girodon |first5=Emmanuelle |last6=Silva |first6=Joaquina |last7=Ferr??z |first7=Lu??s |last8=Barros |first8=Alberto |last9=Sousa |first9=M??rio|doi-access=free }}</ref> while the smaller group (estimated between 10 and 40%) is associated with Unilateral [[Renal agenesis]] (URA). The mutational spectrum of CFTR in the first group differs from that observed in classic cystic fibrosis, with milder missense or splice variants present on at least one chromosome.<ref name="pmid7739684">{{cite journal |vauthors=Chillón M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, et al. |title=Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens |journal=N. Engl. J. Med. |volume=332 |issue=22 |pages=1475-80 |year=1995 |pmid=7739684 |doi=10.1056/NEJM199506013322204}}</ref><ref name="pmid9272157">{{cite journal |vauthors=Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M |title=Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens |journal=Hum. Genet. |volume=100 |issue=3-4 |pages=365–377 |year=1997 |pmid=9272157 |doi=10.1007/s004390050518}}</ref> The genetic basis of the second group is not well understood. In the subset of males with both CBAVD and URA, the CFTR mutation has been shown to occur at a rate only slightly higher than the overall population. It has been suggested that another gene may be responsible for this condition.<ref name="pmid9272157">{{cite journal |vauthors=Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M |title=Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens |journal=Hum. Genet. |volume=100 |issue=3-4 |pages=365–377 |year=1997 |pmid=9272157 |doi=10.1007/s004390050518}}</ref><ref name="pmid11157821">{{cite journal |vauthors=McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R |title=Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations| |journal=Hum. Reprod. |volume=16 |issue=2 |pages=282–288 |year=2001 |pmid=11157821 |doi=10.1093/humrep/16.2.282}}</ref> |
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Mutation of the CFTR gene is found to result in [[obstructive azoospermia]] in postpubertal 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 persistent respiratory symptoms present in only 51% of total CF patients.<ref name="pmid9580754">{{cite journal |vauthors=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> |
Mutation of the CFTR gene is found to result in [[obstructive azoospermia]] in postpubertal 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 persistent respiratory symptoms present in only 51% of total CF patients.<ref name="pmid9580754">{{cite journal |vauthors=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> |
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In the subset of males with both CBAVD and URA, the CFTR mutation has been shown to occur at a rate only slightly higher than the overall population. Thus, McCallum, et al. have suggested another mutation may be responsible for this condition.{{citation needed|date=August 2017}} |
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==Diagnosis== |
==Diagnosis== |
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Revision as of 18:25, 9 July 2020
| Congenital absence of the vas deferens | |
|---|---|
| Specialty | Urology |
| Causes | genetic mutations. |
Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive organs, fail to form properly prior to birth. It may either be unilateral (CUAVD) or bilateral (CBAVD).
Signs and symptoms
The vas deferens connect the sperm-producing testicles to the penis. Therefore, those 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
There are two main populations of CAVD; the larger group is associated with cystic fibrosis and occurs because of a mutation in the CFTR gene,[1][2] while the smaller group (estimated between 10 and 40%) is associated with Unilateral Renal agenesis (URA). The mutational spectrum of CFTR in the first group differs from that observed in classic cystic fibrosis, with milder missense or splice variants present on at least one chromosome.[3][4] The genetic basis of the second group is not well understood. In the subset of males with both CBAVD and URA, the CFTR mutation has been shown to occur at a rate only slightly higher than the overall population. It has been suggested that another gene may be responsible for this condition.[4][5]
Mutation of the CFTR gene is found to result in obstructive azoospermia in postpubertal 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 persistent respiratory symptoms present in only 51% of total CF patients.[6]
Diagnosis
Scrotal ultrasonography and transrectal ultrasonography (TRUS) are useful in detecting uni- or bilateral CAVD, which may be associated with visible abnormalities or agenesis of the epididymis, seminal vesicles or kidneys.[7]
Treatment
Individuals with CAVD can reproduce with the assistance of modern technology with a combination of testicular sperm extraction and intracytoplasmic sperm injection (ICSI). However, as the risk of either cystic fibrosis or renal agenesis is likely to be higher in the children, genetic counseling is generally recommended.
References
- ^ Online Mendelian Inheritance in Man (OMIM): VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD - 277180
- ^ 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.
{{cite journal}}: Unknown parameter|name-list-format=ignored (|name-list-style=suggested) (help) - ^ Chillón M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, et al. (1995). "Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens". N. Engl. J. Med. 332 (22): 1475–80. doi:10.1056/NEJM199506013322204. PMID 7739684.
- ^ a b Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M (1997). "Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens". Hum. Genet. 100 (3–4): 365–377. doi:10.1007/s004390050518. PMID 9272157.
- ^ McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R (2001). "Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations". Hum. Reprod. 16 (2): 282–288. doi:10.1093/humrep/16.2.282. PMID 11157821.
{{cite journal}}: Cite has empty unknown parameter:|1=(help) - ^ 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:10.1016/S0022-3476(98)70344-0. PMID 9580754.
- ^ Lotti, F.; Maggi, M. (2014). "Ultrasound of the male genital tract in relation to male reproductive health" (PDF). Human Reproduction Update. 21 (1): 56–83. doi:10.1093/humupd/dmu042. ISSN 1355-4786. PMID 25038770.