CFTR GENE – Definition, Causes and Treatment Options
1. Definition
The CFTR gene stands for Cystic Fibrosis Transmembrane conductance Regulator. This gene helps produce a protein that manages how salt and fluids pass through cell membranes. It plays an important role in keeping the lungs, digestive system and reproductive system working properly.
When there’s a mutation (change) in the CFTR gene, it can lead to cystic fibrosis, a genetic disorder. However, even without full-blown cystic fibrosis, a mutation in this gene can cause issues, especially in men’s fertility.
2. Key Takeaways
- The CFTR gene helps regulate salt and fluid in cells.
- A problem with this gene can cause issues with breathing, digestion and male reproductive health.
- Men with a CFTR gene mutation may have a condition called CBAVD (Congenital Bilateral Absence of the Vas Deferens), which blocks the transport of sperm.
- Genetic testing can detect CFTR mutations.
- Treatments like ICSI (Intracytoplasmic Sperm Injection) and surgical sperm retrieval can help affected men have children.
3. Why CFTR Gene Diagnosis is Important for Fertility Treatment
Many men who carry a CFTR gene mutation have normal sexual function and may not realise there is an issue until they try to conceive. One common result of this mutation is CBAVD, where the tubes (vas deferens) that carry sperm from the testicles are missing. This means sperm cannot mix with semen, making natural pregnancy impossible.
Diagnosing CFTR mutations can be helpful in
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Identifying the Cause of Azoospermia
CFTR gene testing can reveal if the absence of sperm is due to a missing vas deferens caused by a genetic mutation.
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Choosing the Right Fertility Treatment
A clear diagnosis helps specialists recommend the most suitable options, such as sperm retrieval and ICSI.
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Understanding Genetic Risks
Testing highlights the chance of passing on CFTR-related conditions to future children, helping couples make informed choices.
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Accessing Genetic Counselling
Couples can receive expert guidance on reproductive options, risks and embryo screening based on their genetic profile.
4. Example/Use Case
A couple facing difficulty in getting pregnant seeks help from a fertility specialist. The male partner’s semen analysis shows no sperm. A physical exam reveals that his vas deferens are missing. Genetic testing finds a mutation in his CFTR gene, confirming a diagnosis of CBAVD.
He undergoes surgical sperm retrieval, and the couple uses IVF or ICSI to achieve pregnancy. The couple also chooses to have genetic screening of embryos to prevent passing on the mutation.
5. FAQs
Q1: What is the CFTR gene mutation?
A CFTR gene mutation is a change in the DNA that affects how the CFTR protein works. This may result in various health concerns, one of which is male infertility.
Q2: How is CFTR gene mutation diagnosed?
It is diagnosed through a genetic test using a blood or saliva sample. It’s often done if a man has no sperm in his semen or has a family history of cystic fibrosis.
Q3: Does having a CFTR mutation mean I have cystic fibrosis?
Not necessarily. Many individuals carry the gene mutation without showing any signs or symptoms. Others may have mild or full symptoms, depending on the type and number of mutations.
Q4: Can men with a CFTR gene mutation have biological children?
Yes. While natural conception is often not possible, treatments like sperm retrieval and ICSI can help achieve pregnancy.
Q5: Will the baby inherit the mutation?
The risk increases if the female partner also carries the same gene mutation. Genetic counselling and embryo screening (PGT-M) are helpful in these cases.
6. Call to Action
If you or your partner are facing challenges with fertility and have concerns about genetic causes, especially absent sperm or family history of cystic fibrosis, it’s important to speak with a fertility specialist. Early genetic testing for CFTR mutations can guide the right treatment and protect your future family’s health.
7. Related Terms
- Cystic Fibrosis
- CFTR Mutation
- CBAVD
- Azoospermia
- Vas Deferens
- ICSI
- IVF
- PGT-M
- Genetic Counselling
- Surgical Sperm Retrieval
- Male Infertility
- Carrier Screening
- Congenital Conditions
- Reproductive Genetics
- Assisted Reproductive Techniques
