Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations

Wong, Rachel; Gu, Kaien; Ko, Yool; Patel, Premal

doi:10.1016/j.beem.2020.101476

Cited by 4 publications

(2 citation statements)

References 65 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Current techniques are based on the micro-surgery of suction of spermatozoids at the level of the testicular epididymis. 18…”

Section: Discussionmentioning

confidence: 99%

Bilateral absence of vas deferens (BAVD) a case report

Mohammed¹

2021

MOJCR

View full text Add to dashboard Cite

Mutations in transmembrane conductance of cystic fibrosis (CFTR) are found in men in couples followed for infertility and for which azoospermia associated with congenital bilateral absence of the deferential canal (CBAVD) were found in men. There is a frequent association between CFTR and CBAVD abnormalities. CBAVD exists in almost all men with cystic fibrosis and causes an obstructive azoospermia that cannot be treated surgically; this poses a diagnostic and therapeutic problem because its management remains complex. However, with the use of assisted reproductive techniques (ART), in particular the aspiration of testicular or epididymic sperm, the injection of intracytoplasmic sperm and in vitro fertilization, it is possible that men with CBAVD can produce offspring. We report the case of a 32-year-old patient who consulted for primary infertility evolving over the past 5 years (genetic advice was provided). The aim of this article is to show the diagnostic and therapeutic difficulties related to this particular form of male primary infertility. Recent assisted human reproduction techniques like Intracytoplasmic Sperm Injection (ICSI) or In Vitro Fertilization (FIV) offer very good results for couple consulting for infertility of man with CBAVD.

show abstract

“…Current techniques are based on the micro-surgery of suction of spermatozoids at the level of the testicular epididymis. 18…”

Section: Discussionmentioning

confidence: 99%

Bilateral absence of vas deferens (BAVD) a case report

Mohammed¹

2021

MOJCR

View full text Add to dashboard Cite

show abstract

“…However microdeletions of fertility-related genes give rise to male-factor infertility anomalies [7]. Whereas single gene disorders occur as a result of mutations in a single gene for instance cystic fibrosis disorder (lung disease) is caused by recessive mutation in cystic fibrosis transmembrane conductance regulator (CFTR) that is responsible for congenital absence of the vas deferens (if inherited from both parents) leading to male infertility [8].…”

Section: Introduction / введениеmentioning

confidence: 99%

Identification of key miRNAs as regulatory biomarkers of gonadotropins leading to infertility in males

Oohayyed,

Mohammed,

Al-Rahim

et al. 2023

Akušerstvo, ginekologiâ i reprodukciâ

View full text Add to dashboard Cite

Introduction. Infertility is a highly fatal reproductive system disorder that affects the ability of a couple to reproduce. Over the past decades, a drastic uplift has been recorded in infertility cases among males ranging from 20 to 70 % indicating spermatogenesis impairment.Aim: to identify key microRNAs (miRNAs) as regulatory biomarkers of gonadotropins involved in dysregulation of fertility-related genes to propose potential therapeutic strategies that would combat the action of oncogenic miRNAs (oncomiRs).Materials and Methods. Interaction analysis was performed between miRNAs and fertility-related genes namely luteinizing hormone choriogonadotropin receptor (LHCGR), gonadotropin-releasing hormone receptor (GnRHR), follicle-stimulating hormone receptor (FSHR) and cystic fibrosis transmembrane conductance regulator (CFTR) to identify key miRNAs as regulatory biomarkers of gonadotropins leading to infertility in males.Results. A total of 10, 13, 31 and 18 strong and potential binding sites were predicted for miRNAs-LHCGR, miRNAs-GnRHR, miRNAs-FSHR, and miRNAs-CFTR respectively employing miRWalk (comprehensive genetic database including miRNA targets) followed by identification of 6, 18, 55 and 17 significant interactions through RNA22. Subsequently shortlisted miRNAs and messenger RNA (mRNA) regions were subjected to Vfold-Pipeline and RNAComposer individually for 3D structure prediction. Additionally molecular docking was carried out between miRNAs and mRNAs models that discovered potential and stable interactions elucidating miR-6880-FSHR(R2) as a highly stable complex with least binding affinity (-566.3) and high confidence score (0.999).Conclusion. Hence this study proposes key oncomiRs as a diagnostic biomarker and therapeutic target to bring about a promising treatment strategy against male factor infertility. However wet lab investigations are required for further validations of proposed study.

show abstract

Posttesticular causes of male infertility

Martinez,

Ramasamy

2025

Male Infertility

View full text Add to dashboard Cite

Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations

Cited by 4 publications

References 65 publications

Bilateral absence of vas deferens (BAVD) a case report

Bilateral absence of vas deferens (BAVD) a case report

Identification of key miRNAs as regulatory biomarkers of gonadotropins leading to infertility in males

Posttesticular causes of male infertility

Contact Info

Product

Resources

About