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Unraveling the Role of CFTR Gene Mutations in Male Infertility: A Comprehensive Review of Insights, Clinical Evidence, and Future Directions

. Hira Ijaz, Rukhsana Parveen, Mahrukh Javed & Ayesha Sehar


Men with cystic fibrosis are almost always sterile due to congenital bilateral lack of vas deferens but they are able to reproduce with assisted reproduction. Research has shown correlations between elevated frequencies of CFTR mutations and the following conditions: idiopathic ejaculatory duct obstruction (EDO), congenital bilateral absence of the vas deferens (CBAVD), epididymal blockage, and oligospermia. The cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is present on the exocrine gland epithelium, regulates the viscosity of secretions by acting as an ion transporter. The CFTR gene is primarily responsible for mutations that cause congenital bilateral absence of the vas deferens (CBAVD). About 2‑6% of male infertility subjects and up to 25% of obstructive azoospermia cases are caused by CBAVD. Studies have shown that 78% of CBAVD patients have alterations in the CFTR gene locus, with 53% having two mutations and 25% having one. This review explores the molecular mechanisms of male infertility caused by CFTR gene mutations. It also evaluates CFTR gene structure, function, clinical evidence and impact of these genetic anomalies on reproductive function. Although research has provided insight on these correlations, much more has to be discovered on the specific processes and how they interact in male infertility. More research is required to create specialized diagnostic tools and therapy strategies for males who experience infertility due to CFTR gene mutations. As long as male infertility continues to be studied further, the future prospects for affected men and couples will become more effective.

Key words: CFTR mutations, male infertility, congenital bilateral absence of vas deferens (CBAVD), obstructive azoospermia, diagnostic tools

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