CFTR Gene Mutations and their Role in Male Infertility: A Case Study
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, wh...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-05-01
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| Series: | Journal of Pharmacy and Bioallied Sciences |
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| Online Access: | https://journals.lww.com/10.4103/jpbs.jpbs_469_25 |
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| author | Namrata Anjankar Akash More Ashish P. Anjankar Sanket S. Mahajan Neha Nawale |
| author_facet | Namrata Anjankar Akash More Ashish P. Anjankar Sanket S. Mahajan Neha Nawale |
| author_sort | Namrata Anjankar |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b5efbbf01c1e4e4b8ebbb258b38ab379 |
| institution | DOAJ |
| issn | 0976-4879 0975-7406 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Pharmacy and Bioallied Sciences |
| spelling | doaj-art-b5efbbf01c1e4e4b8ebbb258b38ab3792025-08-20T03:07:49ZengWolters Kluwer Medknow PublicationsJournal of Pharmacy and Bioallied Sciences0976-48790975-74062025-05-0117Suppl 1S1008S101010.4103/jpbs.jpbs_469_25CFTR Gene Mutations and their Role in Male Infertility: A Case StudyNamrata AnjankarAkash MoreAshish P. AnjankarSanket S. MahajanNeha NawaleThe 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.https://journals.lww.com/10.4103/jpbs.jpbs_469_25cftr geneinfertilityivfmutationpgt |
| spellingShingle | Namrata Anjankar Akash More Ashish P. Anjankar Sanket S. Mahajan Neha Nawale CFTR Gene Mutations and their Role in Male Infertility: A Case Study Journal of Pharmacy and Bioallied Sciences cftr gene infertility ivf mutation pgt |
| title | CFTR Gene Mutations and their Role in Male Infertility: A Case Study |
| title_full | CFTR Gene Mutations and their Role in Male Infertility: A Case Study |
| title_fullStr | CFTR Gene Mutations and their Role in Male Infertility: A Case Study |
| title_full_unstemmed | CFTR Gene Mutations and their Role in Male Infertility: A Case Study |
| title_short | CFTR Gene Mutations and their Role in Male Infertility: A Case Study |
| title_sort | cftr gene mutations and their role in male infertility a case study |
| topic | cftr gene infertility ivf mutation pgt |
| url | https://journals.lww.com/10.4103/jpbs.jpbs_469_25 |
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