Congenital Bilateral Absence of the Vas Deferens

Cai, Zhonglin; Li, Hongjun

doi:10.3389/fgene.2022.775123

Cited by 16 publications

(8 citation statements)

References 79 publications

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“…Males often face an obstruction of the vas deferens, which carries sperm from the testes to the penis; the vas deferens may even be absent (Cai & Li, 2022). The obstruction is often encountered in CF (Cui et al, 2020).…”

Section: Reproductive Systemmentioning

confidence: 99%

Mathematical models of cystic fibrosis as a systemic disease

Olivença

Davis

Kumbale

et al. 2023

WIREs Mechanisms of Disease

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Cystic fibrosis (CF) is widely known as a disease of the lung, even though it is in truth a systemic disease, whose symptoms typically manifest in gastrointestinal dysfunction first. CF ultimately impairs not only the pancreas and intestine but also the lungs, gonads, liver, kidneys, bones, and the cardiovascular system. It is caused by one of several mutations in the gene of the epithelial ion channel protein CFTR. Intense research and improved antimicrobial treatments during the past eight decades have steadily increased the predicted life expectancy of a person with CF (pwCF) from a few weeks to over 50 years. Moreover, several drugs ameliorating the sequelae of the disease have become available in recent years, and notable treatments of the root cause of the disease have recently generated substantial improvements in health for some but not all pwCF. Yet, numerous fundamental questions remain unanswered. Complicating CF, for instance in the lung, is the fact that the associated insufficient chloride secretion typically perturbs the electrochemical balance across epithelia and, in the airways, leads to the accumulation of thick, viscous mucus and mucus plaques that cannot be cleared effectively and provide a rich breeding ground for a spectrum of bacterial and fungal communities. The subsequent infections often become chronic and respond poorly to antibiotic treatments, with outcomes sometimes only weakly correlated with the drug susceptibility of the target pathogen. Furthermore, in contrast to rapidly resolved acute infections with a single target pathogen, chronic infections commonly involve multi‐species bacterial communities, called “infection microbiomes,” that develop their own ecological and evolutionary dynamics. It is presently impossible to devise mathematical models of CF in its entirety, but it is feasible to design models for many of the distinct drivers of the disease. Building upon these growing yet isolated modeling efforts, we discuss in the following the feasibility of a multi‐scale modeling framework, known as template‐and‐anchor modeling, that allows the gradual integration of refined sub‐models with different granularity. The article first reviews the most important biomedical aspects of CF and subsequently describes mathematical modeling approaches that already exist or have the potential to deepen our understanding of the multitude aspects of the disease and their interrelationships. The conceptual ideas behind the approaches proposed here do not only pertain to CF but are translatable to other systemic diseases.This article is categorized under: Congenital Diseases > Computational Models

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Section: Reproductive Systemmentioning

confidence: 99%

Mathematical models of cystic fibrosis as a systemic disease

Olivença

Davis

Kumbale

et al. 2023

WIREs Mechanisms of Disease

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“…In the absence of a vas deferens, sperm cannot pass through the epididymis and results in a low volume, acidic, azoospermia. This is a significant risk factor for infertility as 95% of men with cystic fibrosis are found to have this manifestation bilaterally, making natural conception impossible [27]. Counseling should focus on the ability to surgically obtain sperm for use with IVF.…”

Section: Key Pointsmentioning

confidence: 99%

Counseling for the man with severe male infertility

Belladelli

Muncey

Seranio

2022

Current Opinion in Urology

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Purpose of reviewThis review summarize the proper counseling for men with severe male factor infertility.Recent findingsMen who are experiencing infertility should have a semen analysis, the results of which may imply additional investigations, including genetic and hormonal. Moreover, possible modifiable factors that may harm men's reproductive health should be carefully evaluated. Finally, different treatment options are available.SummaryApproximately 15% of couples struggle with infertility. Complete evaluations of both men and women are required to determine the etiology of infertility and determine appropriate treatment.

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“…It has been reported that genetic variants in CBAVD patients can affect spermatogenic function and sperm quality, thereby interfering with the ART outcome. In addition, there is a risk of passing on pathogenic genetic variants to offspring 13 . A novel comparison of CFTR variants and fertility outcomes of patients with either CF or CBAVD alone found that CF men were more likely to exhibit lower sperm quality, greater difficulty with sperm retrieval, and worse ICSI outcomes compared with CBAVD-only patients 14 .…”

Section: Introductionmentioning

confidence: 99%

Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China

Cui

et al. 2023

Sci Rep

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Biallelic variants in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) are the main pathogenic factor of congenital absence of the vas deferens (CAVD), including congenital bilateral absence of the vas deferens (CBAVD) and congenital unilateral absence of the vas deferens (CUAVD). However, there are few reports about the correlation between CFTR variant and outcomes of assisted reproductive technology (ART) in CAVD patients of China. In this study, 104 patients with CAVD were recruited in Central China, and provided gene detection by the whole-exome sequencing, among them 69% (72/104) carried at least one variant in CFTR and one carried adhesion G protein-coupled receptor G2 (ADGRG2) variant. A total of 81 CAVD patients were treated with ART, of which 21 and 60 carried none or at least one variant in CFTR, respectively. The fertilization rate, cleavage rate, effective embryo rate, implantation rate, clinical pregnancy rate and live birth rate per fresh embryo transfer were compared between patients with and without CFTR variants. It was found that the ART outcomes had no significant difference whether the patients carried the CFTR variant or not. In addition, all of the offspring were healthy after follow-up. In conclusion, rare CFTR variants may play a major role in patients with CAVD in Central China, which were greatly different from other descent. There was no significant difference in ART outcomes in CAVD patients with or without CFTR variants. The limitations of this study were that there was no statistical analysis of the sperm quality through TESA and conclusions were relatively limited due to the small sample size of the study.

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Congenital Bilateral Absence of the Vas Deferens

Cited by 16 publications

References 79 publications

Mathematical models of cystic fibrosis as a systemic disease

Mathematical models of cystic fibrosis as a systemic disease

Counseling for the man with severe male infertility

Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China

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