Congenital bilateral absence of vas deferens

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



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(17.5%)
11484456
[Bilateral vas deferens agenesis and inguinal hernia in a child. A rare, early presentation of cystic fibrosis].
Merrot T, Delarue A, Chaumoitre K, Panuel M, Sigaudy S, Chazalette JP, Alessandrini P.
Arch Pediatr. 2001;8(7):728-30.
Inguinal hernia
CFTR
Cystic Fibrosis Differential Diagnosis Hernia, Inguinal Homo sapiens Infant Male Oligospermia
2
(4.0%)
30136289
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;50(10):e13131.
Azoospermia
Adult Animals Azoospermia Fertility Preservation Granuloma, Foreign-Body Homo sapiens Incidental Findings Male Male Urogenital Diseases Ovum Schistosoma haematobium Schistosoma mansoni Schistosomiasis mansoni Sperm Retrieval Testis Young Adult
2
(4.0%)
26401878
(4757014)
Percutaneous epididymal sperm aspiration as a method for sperm retrieval in men with obstructive azoospermia seeking fertility: operative and laboratory aspects.
Esteves SC.
Int Braz J Urol. 2015;41(4):817; discussion 818.
Aspiration
Females Homo sapiens Male Microsurgery Oligospermia Pregnancy
2
(4.0%)
22390181
Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis.
Grzegorczyk V, Rives N, Sibert L, Dominique S, Mace B.
Andrologia. 2012;44(5):358-62.
Bronchiectasis
CFTR
p|DEL|508|F p|SUB|A|455|E;RS#:74551128
Adult Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulato... Females Genetic Counseling Homo sapiens Male Male Urogenital Diseases Middle Aged Pregnancy Sperm Injections, Intracytoplasmic Sperm Retrieval
2
(4.0%)
18304229
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.
Sakamoto H, Yajima T, Suzuki K, Ogawa Y.
Int J Urol. 2008;15(3):270-1.
Azoospermia
CFTR
p|SUB|I|556|V;RS#:75789129 rs113857788 rs121909046
Adult Cystic Fibrosis Transmembrane Conductance Regulato... Homo sapiens Male Mutation
2
(4.0%)
9623039
Successful pregnancy in a case of azoospermia from congenital bilateral absence of vas deferens (CBAVD) using percutaneous epididymal sperm aspiration (PESA) and intracytoplasmic sperm injection (ICSI).
Pruksananonda K, Suwajanakorn S, Ahnonkitpanich V, Boonkasemsanti W, Virutamasen P.
J Med Assoc Thai. 1998;81(5):379-84.
Azoospermia
Adult Artificial Insemination Cytoplasm Females Homo sapiens Male Microinjections Oligospermia Pregnancy Pregnancy Outcome
        

Phenotype(s) retrieved from Orphanet

    Total: 5

HPO ID Term Frequency
HP:0003251 Male infertility Very frequent (99-80%)
HP:0011962 Obstructive azoospermia Very frequent (99-80%)
HP:0012873 Absent vas deferens Very frequent (99-80%)
HP:0000798 Oligospermia Occasional (29-5%)
HP:0012210 Abnormal renal morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000027 Azoospermia 2
HP:0011962 Obstructive azoospermia 2
HP:0002835 Aspiration 1
HP:0003251 Male infertility 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
ADGRG2 adhesion G protein-coupled receptor G2 10149
CFTR cystic fibrosis transmembrane conductance regulator 1080