Genetic factors play an important role in male fertility. In some men, inherited or spontaneous genetic changes can interfere with sperm production, sperm transport, or hormone regulation. While a genetic diagnosis can feel daunting, it often provides valuable clarity and helps guide appropriate fertility treatment options.
This article explains how genetics can affect male fertility, the most common genetic conditions involved, how they are diagnosed, and what options may still be available for family building.
What Are Genetic Causes of Male Infertility?
Genetic causes of male infertility occur when changes in chromosomes or individual genes disrupt normal reproductive function. These changes may be inherited or arise spontaneously during development.
Genetic factors are estimated to account for:
- Around 10–15% of severe male infertility
- A significant proportion of azoospermia and severe oligozoospermia
Identifying a genetic cause is particularly important because it can:
- Explain why sperm production is affected
- Inform treatment decisions
- Highlight potential implications for future children
How Genetics Affects Male Fertility
Genes influence male fertility by controlling:
- Testicular development
- Sperm production (spermatogenesis)
- Hormone signalling
- Development of the reproductive tract
When these processes are disrupted at a genetic level, sperm may be absent, very low in number, or unable to function properly.
Common Genetic Causes of Male Infertility
Klinefelter Syndrome (47,XXY)
Klinefelter syndrome is one of the most common chromosomal causes of male infertility.
Key features may include:
- An extra X chromosome (47,XXY)
- Small, firm testes
- Low testosterone levels
- Azoospermia or very low sperm counts
Although most men with Klinefelter syndrome are infertile, sperm retrieval may still be possible in some cases using advanced techniques.
Y Chromosome Microdeletions
The Y chromosome contains genes essential for sperm production. Small missing sections (microdeletions) can severely impair spermatogenesis.
Y chromosome microdeletions are associated with:
- Severe oligozoospermia
- Non-obstructive azoospermia
The type of deletion influences whether sperm retrieval is possible.
Congenital Bilateral Absence of the Vas Deferens (CBAVD)
Some men are born without both vas deferens, the tubes that transport sperm.
This condition is often linked to:
- Mutations in the CFTR gene
- A mild or “silent” form of cystic fibrosis
Men with CBAVD typically have normal sperm production, but sperm cannot reach the semen and can cause Azoospermia, with low volume or acidic semen.
Other Genetic and Chromosomal Abnormalities
Less common genetic factors include:
- Structural chromosomal rearrangements (translocations)
- Single-gene mutations affecting sperm development
- Disorders of sexual development
These are usually identified through specialised genetic testing.
Symptoms of Genetic Infertility
Genetic infertility often causes no outward symptoms. Many men appear healthy and only discover a genetic cause during fertility testing.
Possible associated features may include:
- Very low or absent sperm count
- Small testes
- Low testosterone symptoms
- Delayed puberty (in some cases)
- History of undescended testes
Because symptoms are often subtle, testing is key.
How Are Genetic Causes Diagnosed?
Semen Analysis
Genetic testing is usually considered when semen analysis shows:
- Azoospermia
- Severe oligozoospermia
Hormone Testing
Hormone profiles help distinguish genetic causes from hormonal or obstructive conditions.
Genetic Testing
Depending on findings, testing may include:
- Karyotype analysis (chromosome testing)
- Y chromosome microdeletion testing
- CFTR gene mutation testing
Genetic testing is typically offered alongside counselling to explain the results and implications.
A comprehensive fertility assessment, such as those available through Acorn Andrology’s
fertility packages, ensures that genetic factors are considered at the appropriate stage of investigation.
Essential
You want to assess your sperm quality, confirm vasectomy success, investigate retrograde ejaculation or absence of semen, check for azoospermia (no sperm), or verify previous results. 2-7 days’ abstinence needed.
- Volume
- Vitality
- pH
- Concentration
- Motility
- Morphology
- Antibodies
- Same-day results
- Photo of sperm
Trying
You’ve been struggling to conceive and want a comprehensive fertility assessment. This package includes everything in the Essential plus extra tests and support. 2-3 days’ abstinence needed.
- Sperm DNA Fragmentation Test
- Video clip of sperm
- Post-analysis mini consultation – 15mins
- Access to male fertility coaching session
- Essential Analysis
- Same-day results
- Volume
- Vitality
- pH
- Concentration
- Motility
- Morphology
- Antibodies
- Photo of sperm
Sperm DNA Frag Only
This test should only be booked individually if recommended by a healthcare professional. 2-3 days’ abstinence needed.
We use the Sperm Chromatin Dispersion (SCD) Asssay to determine the amount of DNA Fragmentation in your sample.
Treatment Options for Genetic Male Infertility
Treatment depends on the specific genetic condition identified.
Sperm Retrieval Techniques
In some genetic conditions, sperm may still be present in small areas of the testes and can be retrieved using techniques such as:
- Micro-TESE
- TESA
Retrieved sperm may be used with ICSI (Intracytoplasmic Sperm Injection).
Assisted Reproductive Technologies (ART)
Where sperm are available, assisted fertility treatment may offer a pathway to biological parenthood.
In some cases, donor sperm may be discussed as an alternative option.
Genetic Counselling
Genetic counselling is an essential part of care and helps:
- Explain inheritance risks
- Discuss the chance of passing on genetic conditions
- Support informed decision-making
Can Men with Genetic Infertility Have Biological Children?
In many cases, yes — although this depends on the specific diagnosis.
Advances in fertility treatment mean that some men with genetic infertility can still father biological children, while others may need to explore alternative family-building options.
Early diagnosis helps avoid unnecessary treatments and provides clarity on realistic outcomes.
Emotional Considerations
A genetic diagnosis can bring emotional challenges, including feelings of guilt, shock, or uncertainty. Access to accurate information and appropriate support is important for both individuals and couples navigating fertility decisions.
When Should You Consider Genetic Testing?
Genetic testing may be recommended if:
- Azoospermia is diagnosed
- Sperm count is extremely low
- There is congenital absence of the vas deferens
- There is a family history of genetic conditions
- Fertility treatment is being planned but you have severely low count or Azoospermia
FAQs
They are not the most common cause, but they account for a significant proportion of severe male infertility.
The genetic condition itself cannot be reversed, but fertility treatment may still be possible in some cases.
Some genetic conditions can be inherited, and therefore passed down to male children. Genetic counselling helps assess and explain these risks.
No. It is usually recommended when semen analysis results suggest a severe or unexplained cause.
In Conclusion
Genetic causes of male infertility can provide important answers when sperm production is severely affected. While not all genetic conditions are treatable, identifying them allows for appropriate fertility planning, informed decision-making, and realistic expectations.
A structured fertility assessment — including semen analysis, hormone testing, and genetic screening where indicated — ensures that no underlying cause is missed. Exploring professional evaluation through Acorn Andrology’s fertility packages can help guide the next steps with clarity and confidence.