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

@article{Augarten1994CongenitalBA,
  title={Congenital bilateral absence of vas deferens in the absence of cystic fibrosis},
  author={Arie Augarten and Yaakov Yahav and Joseph Laufer and Amir Szeinberg and J. Dor and S. Mashiach and Igal Madgar and Dorte Halle and Eran Gazit and Batsheva Kerem},
  journal={The Lancet},
  year={1994},
  volume={344},
  pages={1473-1474}
}
The high frequency of mutations in the cystic fibrosis gene in patients with congenital bilateral absence of vas deferens (CBAVD) has raised the question whether all of them have a genital form of cystic fibrosis. We investigated 47 CBAVD patients by ultrasonography, 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least one cystic… 
Congenital absence of the vas deferens: a mild form of cystic fibrosis.
TLDR
New insight is gained into the genetic basis of phenotypic variability and the possible contributing mechanisms in cystic fibrosis and some of the lessons learned may be useful in the understanding of other genetic disorders.
Genetics of the congenital absence of the vas deferens
Congenital absence of the vas deferens (CAVD) may have various clinical presentations depending on whether it is bilateral (CBAVD) or unilateral (CUAVD), complete or partial, and associated or not
Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations.
TLDR
The genetics, pathogenesis, embryology, and diagnosis of treatment of CAVD are discussed and future work in this area likely will aim to better understand the epigenetic factors that influence the development of the condition in order to identify potential upstream therapeutic targets.
Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype
To assess better the link between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis (CF), we compared sweat chloride values, analysis of the CFTR intron 8 poly(T) tract
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens.
TLDR
In men with CBAVD without any other clinical features of CF, the diagnosis of CF may not be made, and putative etiologic factors may suggest that men withCBAVD and CFTR mutations could be considered within the spectrum of clinical CF.
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens.
TLDR
It is suggested that some patients with CBAVD without CFTR gene mutation or 5T variant, even when their sweat test is negative, may show clinical suspicion of carrying a CF TR gene mutation and therefore are at risk of generating children affected by CF if the partner carries a mutation as well.
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations
TLDR
Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG, ‐33G→A).
Urogenital anomalies in men with congenital absence of the vas deferens.
TLDR
Urogenital anomalies in men with congenital absence of the vas deferens but vasal agenesis can occur without any evidence of CFTR defects and CFTR abnormalities are rarely detected.
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
TLDR
Couples requesting microsurgical epididymal sperm aspiration/in-vitro fertilization and those in which the man has CF should be offered CFTR mutations screening if CBAVD is the cause of the male infertility.
Normal vas deferens in fetuses with cystic fibrosis.
TLDR
The normal organogenesis of the vas deferens, the presence of secretions filling the lumen of the deltaF508 +/+ fetus and the high proportion of normal ducts reported in prepubertal male cystic fibrosis patients suggest a mechanism of luminal obstruction resulting in duct atrophy and infertility in male adults with cysts fibrosis.
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References

SHOWING 1-5 OF 5 REFERENCES
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.
TLDR
Some, if not all, otherwise healthy men with CBAVD reflect a newly recognized, primarily genital, phenotype of CF, and CF mutation analysis should be recommended for them and their partners, as well as for their relatives.
The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis.
TLDR
CBAVD will be defined in a strict sense as occurring only when both scrotal vasa are deficient to palpation and/or exploration, either partially or totally, if either vasa is palpable from its origin to the external ring, CBAVD is not present.
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.
TLDR
It is demonstrated that most men presenting with CBAVD are not compound heterozygotes for mutations within the CFTR gene and can be distinguished from individuals with atypical or asymptomatic CF on the basis of the bioelectric properties of their nasal epithelium.
Congenital absence of the vas deferens.
  • S. Rubin
  • Medicine
    Scandinavian journal of urology and nephrology
  • 1975
TLDR
Endeavours to produce an artificial spermatocele with the aid of an isolated flap of tunica vaginalis in several patients proved unsuccessful and the failure of treatment of these patients may perhaps be due to some change in the function of their epididymides.