ArticleJournal of pharmacy & bioallied sciences2025
CFTR Gene Mutations and their Role in Male Infertility: A Case Study.
Article in Journal of pharmacy & bioallied sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- Genetic and Epigenetic Risks of Male Infertility in ART.International journal of molecular sciences · 2025Review
- Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The F508del CFTR gene mutation primarily leads to cystic fibrosis development yet produces infertility complications in males. The presented case concerns a 32-year-old man who has azoospermia but does not display cystic fibrosis symptoms. Testing showed the presence of the F508del CFTR mutation, which resulted in identifying obstructive azoospermia with congenital absence of the vas deferens (CAVD). The woman suffered from inadequate ovarian function. Fertility solutions for couples can be obtained through assisted reproductive methods which include testicular sperm extraction (TESE) along with percutaneous epididymal sperm aspiration (PESA) that utilizes intracytoplasmic sperm injection techniques (ICSI). Genetic counseling remains essential for risk assessment because it tells family members if they carry this genetic defect. The assessment matters more when women also have the genetic defect. The research confirms how CFTR mutations affect infertility while demonstrating the need for early genetic screening to properly manage male infertility with unknown causes.
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Registered trials
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