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Congenital bilateral absence of vas deferens

MedGen UID:: 400764
•Concept ID:: C1865433
•: Finding

Synonym:	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal recessive inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018801
OMIM®:	602421
OMIM® Phenotypic series:	PS277180
Orphanet:	ORPHA48

Definition

Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital bilateral absence of vas deferens

Male infertility due to obstructive azoospermia
- Congenital bilateral absence of vas deferens

Professional guidelines

PubMed

Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.

Gaikwad A, Khan S, Kadam S, Shah R, Kulkarni V, Kumaraswamy R, Kadam K, Dighe V, Gajbhiye R
Indian J Med Res 2020 Dec;152(6):575-583. doi: 10.4103/ijmr.IJMR_906_18. PMID: 34145097 Free PMC Article

Infertility and its management in men with cystic fibrosis: review of literature and clinical practices in the UK.

Popli K, Stewart J
Hum Fertil (Camb) 2007 Dec;10(4):217-21. doi: 10.1080/14647270701510033. PMID: 18049957

See all (2)

Recent clinical studies

Etiology

External and Genetic Conditions Determining Male Infertility.

Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328 Free PMC Article

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens.

Wang H, An M, Liu Y, Hu K, Jin Y, Xu S, Chen B, Lu M
Andrology 2020 Sep;8(5):1064-1069. Epub 2020 Feb 25 doi: 10.1111/andr.12769. PMID: 32020786

Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes?

Gallego Á, Rogel R, Pérez-Ardavín J, Lorenzo L, Lujan S, Oltra S, Molina I, Broseta E
Arch Esp Urol 2019 Dec;72(10):1038-1042. PMID: 31823853

Infertility and its management in men with cystic fibrosis: review of literature and clinical practices in the UK.

Popli K, Stewart J
Hum Fertil (Camb) 2007 Dec;10(4):217-21. doi: 10.1080/14647270701510033. PMID: 18049957

Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.

Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I
Lancet 1994 Nov 26;344(8935):1473-4. doi: 10.1016/s0140-6736(94)90292-5. PMID: 7968122

See all (32)

Diagnosis

Genetics of Azoospermia.

Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855 Free PMC Article

Epididymal Appearance in Congenital Absence of Vas Deferens.

Gokhale S, Kochhar K
J Ultrasound Med 2021 Jun;40(6):1085-1090. Epub 2020 Sep 21 doi: 10.1002/jum.15500. PMID: 32955739

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens.

Wang H, An M, Liu Y, Hu K, Jin Y, Xu S, Chen B, Lu M
Andrology 2020 Sep;8(5):1064-1069. Epub 2020 Feb 25 doi: 10.1111/andr.12769. PMID: 32020786

Diagnostics of CFTR-negative patients with congenital bilateral absence of vas deferens: which mutations are of most interest?

Ferlin A, Stuppia L
Expert Rev Mol Diagn 2020 Mar;20(3):265-267. Epub 2019 Dec 23 doi: 10.1080/14737159.2020.1707081. PMID: 31854215

Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens.

Li L, Liang C
Med Sci Monit 2016 Jul 26;22:2643-7. doi: 10.12659/msm.898109. PMID: 27458088 Free PMC Article

See all (27)

Therapy

External and Genetic Conditions Determining Male Infertility.

Schistosomiasis (Bilharziasis) ova: An incidental finding in testicular tissue of an obstructive azoospermic man.

Abdel-Naser MB, Wollina U, Lohan M, Zouboulis CC, Altenburg A
Andrologia 2018 Dec;50(10):e13131. Epub 2018 Aug 22 doi: 10.1111/and.13131. PMID: 30136289

Does the outcome of ICSI in cases of obstructive azoospermia depend on the origin of the retrieved spermatozoa or the cause of obstruction? A comparative analysis.

Kamal A, Fahmy I, Mansour R, Serour G, Aboulghar M, Ramos L, Kremer J
Fertil Steril 2010 Nov;94(6):2135-40. Epub 2010 Feb 26 doi: 10.1016/j.fertnstert.2010.01.041. PMID: 20188354

Optimal use of infertility diagnostic tests and treatments. The ESHRE Capri Workshop Group.

Crosignani PG, Rubin BL
Hum Reprod 2000 Mar;15(3):723-32. doi: 10.1093/humrep/15.3.723. PMID: 10686227

See all (4)

Prognosis

Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.

Cheng H, Yang S, Meng Q, Zheng B, Gu Y, Wang L, Song T, Xu C, Wang G, Han M, Shen L, Ding J, Li H, Ouyang J
J Assist Reprod Genet 2022 Mar;39(3):719-728. Epub 2022 Feb 4 doi: 10.1007/s10815-022-02417-z. PMID: 35119551 Free PMC Article

Investigation of racial disparities in semen parameters among white, black, and Asian men.

Walker Z, Rucker L, Owen J, Wiltshire A, Kendall L, Edmonds J, Gunn D
Andrology 2021 Jul;9(4):1086-1091. Epub 2021 Mar 9 doi: 10.1111/andr.12992. PMID: 33630395

Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes?

Gallego Á, Rogel R, Pérez-Ardavín J, Lorenzo L, Lujan S, Oltra S, Molina I, Broseta E
Arch Esp Urol 2019 Dec;72(10):1038-1042. PMID: 31823853

A novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD).

Feng J, Wu X, Zhang Y, Yang X, Ma G, Chen S, Luo S, Zhang Y
Gene 2019 Nov 30;719:144007. Epub 2019 Jul 26 doi: 10.1016/j.gene.2019.144007. PMID: 31357024

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.

Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ
Hum Reprod 2005 Sep;20(9):2470-5. Epub 2005 May 19 doi: 10.1093/humrep/dei077. PMID: 15905293

See all (8)