Many men only learn about CBAVD (Congenital Bilateral Absence of the Vas Deferens) when faced with unexpected male fertility issues. This rare condition affects the male reproductive system, yet often goes unnoticed until a couple experiences difficulty conceiving. The medical term may sound complex, but it is more common than many realise.
This article aims to explain the condition in simple terms, highlight how it is diagnosed, and explore effective treatment options available in India today for improving male fertility outcomes.
What Is CBAVD?
CBAVD is a congenital condition in which both vas deferens – the ducts responsible for carrying sperm from the testicles to the urethra – are absent or poorly developed at birth. This blockage prevents sperm from exiting the body, resulting in azoospermia, meaning no sperm is present in the semen. While general health remains unaffected, infertility is usually the first and only symptom.
Men with CBAVD typically have normal hormone levels, normal testicular size and function and do not experience any physical symptoms related to the condition.
What Causes CBAVD?
CBAVD is not something that develops later in life. It is a congenital condition, meaning the vas deferens fail to form during foetal development. A frequent underlying cause is a mutation in the CFTR gene, which is also associated with cystic fibrosis. While many individuals with CBAVD do not show signs of cystic fibrosis affecting the lungs or pancreas, the gene mutation is still present.
Genetic testing often reveals this mutation, and genetic counselling is strongly advised – particularly when couples consider assisted reproduction. The National Institutes of Health (NIH) recommends this counselling to help couples understand the possible implications for their offspring.
How Is CBAVD Diagnosed?
CBAVD can be diagnosed through a combination of clinical tests:
- Semen Analysis: Reveals azoospermia and reduced semen volume.
- Fructose Testing: Levels are often low or absent, especially when seminal vesicles are bilaterally absent.
- Scrotal and Transrectal Ultrasound: Confirms absence of the vas deferens and seminal vesicles.
- Physical Examination: The vas deferens are not felt during scrotal examination.
- Hormone Testing: Levels of FSH, LH and testosterone are usually normal.
- Genetic Testing: Identifies mutations in the CFTR gene.
Treatment Options for CBAVD
Although CBAVD itself cannot be corrected surgically, modern fertility treatments provide a clear path to biological fatherhood. Since sperm production in the testicles is typically unaffected, sperm can be retrieved directly and used in assisted reproductive techniques.
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Sperm Retrieval Procedures
There are two primary methods:
- MESA (Microsurgical Epididymal Sperm Aspiration): Involves retrieving sperm from the epididymis using microsurgery.
- TESE (Testicular Sperm Extraction): Sperm are collected directly from the testicular tissue.
Both procedures are safe, minimally invasive and performed by experienced fertility specialists.
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ICSI (Intracytoplasmic Sperm Injection)
ICSI is a revolutionary technique where a single healthy sperm is injected directly into a mature egg. This method is especially effective for men with CBAVD, as it bypasses the need for sperm to travel naturally through the reproductive tract.
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IVF (In Vitro Fertilisation)
In IVF, the retrieved sperm and eggs are combined in a laboratory and allowed to fertilise naturally in an incubator. The resulting embryos are then cultured before being transferred into the woman’s uterus. This process enhances the chances of a successful pregnancy and is commonly used across India.
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Sperm Cryopreservation
To preserve fertility options, sperm retrieved during MESA or TESE can be cryopreserved (frozen) for future use. This allows couples to plan fertility treatments at their convenience and eliminates the need for repeated surgical procedures.
Key Considerations for Patients
Men diagnosed with CBAVD often feel concerned about their ability to father children. However, it is important to know that biological fatherhood is possible. Because sperm production is usually normal, the success rate of assisted reproduction is high in these cases.
Genetic counselling plays a vital role in CBAVD treatment planning. If a CFTR mutation is identified, it is recommended that the female partner also undergo genetic testing to assess any potential risks for the child. Understanding these factors early helps couples make informed decisions and prepares them for a healthy pregnancy.
Conclusion
CBAVD may silently affect fertility, but with today’s medical advances, it no longer needs to be a barrier to fatherhood. At Andrology Center, Coimbatore, besides the basic manual and AI semen analysis, we are the only laboratory in India authorised to carry out the Sperm Chromatin Structure Assay (SCSA®) test for DFI (DNA fragmentation index). In addition to these, we also offer blood and hormone tests.
If you or your partner are struggling with unexplained infertility, we encourage you to seek expert evaluation. With the right diagnosis and support, couples can confidently move forward in their fertility journey – because parenthood is possible, even with CBAVD.