Is There a Link Between Fertility and Genetics? Here's What to Know

If you're trying to conceive, it's natural to wonder whether your genes could be affecting your fertility.
While age, lifestyle and overall health all play important roles, genetics can also influence reproductive health. Certain inherited conditions, chromosome differences and gene variations may affect egg quality, sperm production, hormone function or reproductive development.
However, genetics are rarely the whole story. For most people, fertility is influenced by a combination of genetics, lifestyle, environment and overall health.
This guide explains how genetics can affect fertility in both women and men, when genetic testing may be helpful, and why healthy lifestyle choices still matter.

What do we mean by “genetic influence” on fertility?

Genes are essentially the body’s instruction manual, controlling how your body develops and functions – including in reproductive processes like hormone production, egg and sperm development, ovulation, and implantation.
These genes are organised into structures called chromosomes which are packages of DNA that we inherit from our parents. Most people have 23 pairs of chromosomes, including the sex chromosomes (XX in females and XY in males), which play an important role in reproduction.¹
Importantly, genetic variation is completely normal. Small differences in our genes are what make each of us unique, and most of these variations are harmless and have no impact on our health.
However, genes are delicate, and in some cases, variations or mutations can affect how certain processes work. These changes may be inherited or occur spontaneously and can affect reproductive health in different ways depending on the genes involved. These differences may make it harder to conceive, have a subtle influence, or no noticeable effect at all.

Genetic factors that may impact female fertility

When it comes to female fertility, genetic influences often appear through specific health conditions that affect ovulation, hormone balance, or the ovaries themselves. Some of these conditions are relatively common, while others are rarer but more directly linked to genetic changes.

Premature Ovarian Insufficiency (POI):

This occurs when the ovaries stop working normally before the age of 40. Periods may become irregular or stop, and fertility can be affected. It is a leading cause of female infertility, affecting 1 in 100 women before the age of 40 ².
While contributing factors vary and are still often unknown, around 30-40% of POI cases are linked to genetic causes, including chromosomal changes (e.g. X chromosome changes in regions critical for ovarian development) and single-gene variants like FMR1.³
Many genes involved in processes from mitochondrial function to egg development may contribute to POI. There is a familial link in around 10-15% of cases suggesting hereditary infertility patterns can exist.³³

Polycystic Ovary Syndrome (PCOS)

PCOS is another common cause of female infertility, affecting between 5–25% of women of reproductive age. 'Symptoms vary but can include irregular or absent periods and signs of higher androgen levels, such as acne, excess facial or body hair, or hair thinning. PCOS can also affect fertility⁴. [PT2.1]
Unlike some conditions, PCOS isn’t caused by a single gene. Instead, it’s polygenic, meaning many genes each contribute a small amount to overall risk.
Research shows that 20–50% of close female relatives of women with PCOS may also show traits of the condition, showing PCOS can sometimes run in families, though not always in the same way or with the same symptoms.⁵ While genetics can increase susceptibility, environmental and lifestyle factors (such as diet, weight, and hormone balance) can influence whether and how the condition develops.⁶

Endometriosis

Endometriosis occurs when tissue similar to the womb lining grows outside the uterus, often causing pain and inflammation that can lead to scarring, which may affect fertility.⁶
It’s estimated that 30–50% of women with endometriosis experience infertility, and up to half of infertile women may have the condition.^7,8 ,
Genetics appear to play a role here too. Studies suggest that around 50% of the risk may be hereditary, though as with PCOS, it is polygenic so there are many genes involved with functions ranging from hormone metabolism, immune function, and tissue remodelling.^9,10

Chromosomal Conditions (e.g. Turner Syndrome)

Some fertility challenges for women are linked to chromosomal differences. Turner syndrome, for example, occurs when one X chromosome is missing or partially missing.
This affects ovarian development, often leading to delayed puberty and early ovarian failure (a form of POI). Fertility can be significantly affected, and specialist advice is important when considering pregnancy. ¹² [PT3.1]
While rare, it highlights how chromosomes, not just individual genes, can influence fertility.

MTHFR and Fertility

The MTHFR gene helps your body process folate, an essential nutrient for DNA synthesis and early pregnancy development.
Some people carry MTHFR gene variants, which may affect how efficiently folate is used. There has been research exploring links with miscarriage or implantation issues, but the evidence is still evolving.¹³
For most people, ensuring adequate folate intake (especially in active forms) remains the key takeaway.

AMH and Genetics

Anti-Müllerian Hormone (AMH) is often used as a marker of ovarian reserve.¹⁴ While AMH itself isn’t directly genetic, there is some evidence that ovarian reserve patterns can run in families.
For example, a family history of early menopause may suggest a genetic influence on your reproductive timeline.¹⁵

Genetic factors that may impact male fertility

In men, genetic factors most often affect how sperm is produced, developed, or transported. These effects are usually seen in specific conditions, some of which have a stronger genetic basis than others.

Y Chromosome Microdeletions

Small missing sections of the Y chromosome can affect sperm production by removing genes essential for this process. Found in around 8–15% of men with very low or absent sperm counts, these deletions can be passed from father to son if the father is able to have children (often with assisted reproductive technologies).¹⁶

Klinefelter Syndrome

Klinefelter syndrome is a chromosomal condition where a male is born with an extra X chromosome (XXY instead of the typical XY).
This can affect how the testes develop, often leading to lower testosterone levels and reduced sperm production. As a result, many men with Klinefelter syndrome have very low sperm counts or no sperm in their semen.¹⁷
It’s one of the more common chromosomal causes of male infertility. In some cases, fertility treatments such as surgical sperm retrieval combined with IVF may still make pregnancy possible.

Cystic Fibrosis Gene Mutations

Mutations in the CFTR gene – associated with cystic fibrosis – can affect male fertility in a specific way. In many men with these mutations, a condition called congenital absence of the vas deferens (CBAVD) occurs.
The vas deferens are tubes that carry sperm from the testes to the urethra. In men with CBAVD these tubes are missing or underdeveloped from birth. This means that sperm is still being produced but cannot be transported, leading to infertility. In fact, over 98% of men with cystic fibrosis experience this type of obstruction (although CBAVD can also occur without other cystic fibrosis symptoms).^18,19
The encouraging news is that, because sperm production is often unaffected, fertility treatments such as surgical sperm retrieval combined with IVF can still make pregnancy possible.
Outside of CBAVD, some men with cystic fibrosis may also have low testosterone levels due to factors such as chronic illness and inflammation. While this can affect overall health and wellbeing, it is not the primary cause of infertility.²⁰

DNA Fragmentation and Oxidative Stress

Some men may have genetic predispositions affecting their sperm DNA quality. This is often referred to as DNA fragmentation, where the genetic material inside the sperm becomes damaged or broken.
High levels of DNA fragmentation have been linked to reduced fertility, as well as an increased risk of miscarriage in some cases. While there may be an underlying genetic component, environmental and lifestyle factors also play a significant role. Smoking, poor diet, chronic stress, and exposure to toxins can all increase oxidative stress – an imbalance in the body that can damage sperm cells and their DNA.^21,22
The positive takeaway is that, in many cases, improving lifestyle factors and supporting antioxidant intake may help reduce oxidative stress and support overall sperm health.
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Can infertility run in families?

The short answer is: sometimes.
Certain conditions like PCOS, endometriosis, or early menopause can show patterns within families. For example:

A mother who experienced early menopause may pass on a tendency for earlier ovarian decline
Close relatives with PCOS may increase your likelihood of developing it
Endometriosis risk can be higher if a first-degree relative is affected

However, having a family history doesn’t guarantee fertility challenges. It simply highlights a potential increased risk.

What role does genetic testing play in fertility?

Genetic testing for infertility isn’t routine for everyone, but it can be helpful in certain situations. You may be offered testing if you have:

Recurrent miscarriage
Very low ovarian reserve at a young age
Severe male factor infertility
A known family history of genetic or chromosomal conditions

Common types of testing include:

Carrier screening: a blood or saliva test that checks whether you or your partner carry genes for inherited conditions (even if you don’t have symptoms)²³
Karyotyping: a test that looks at the number and structure of your chromosomes to identify any abnormalities²⁴
Preimplantation Genetic Testing (PGT): used during IVF to test embryos for certain genetic or chromosomal conditions before transfer²⁵
Single-gene tests: looks for specific gene variants linked to fertility issues, such as FMR1 (linked to ovarian function) or MTHFR²⁶

In the UK, some genetic tests may be available on the NHS if there is a clear medical need, such as recurrent miscarriage or suspected chromosomal abnormalities, although access can vary depending on your circumstances and where you live.
If not available on the NHS, testing can also be done privately. Private testing is also available, although the type, relevance and cost of testing can vary. A GP or fertility specialist can help you understand whether a test may be appropriate.
While genetic testing can offer helpful insights, it isn’t necessary for everyone. It’s best considered after speaking with a GP or fertility specialist, who can guide you on what feels right for your situation.

Epigenetics and fertility: can lifestyle still help?

Even if genetics play a role in fertility, they don’t tell the whole story.
Epigenetics is how your environment and behaviours influence how genes are expressed, without changing the DNA itself. One of the main ways this happens is through processes like DNA methylation, which can affect how genes function in the body.
These changes occur throughout life but are especially important in reproduction. During egg and sperm development, and in the early stages of embryo growth, the body undergoes extensive “reprogramming” of gene activity, ensuring the right genes are activated at the right time.

These processes are sensitive to external factors, with your lifestyle influencing gene expression and fertility. For example:

Nutrition: Nutrients like folate and B vitamins play a key role in DNA methylation. Deficiencies may disrupt normal gene regulation, which can affect egg quality, sperm development, and embryo implantation. High-fat diets have been found to similarly interfere with these processes.²⁷
Smoking: Has been shown to alter DNA methylation patterns in sperm and increase oxidative damage, which can reduce sperm count and motility.²⁸
Stress: Chronic stress can influence hormone regulation via the hypothalamic–pituitary–gonadal (HPG) axis, potentially impacting ovulation and sperm production.²⁹
Alcohol and toxins: Exposure to alcohol and environmental chemicals (such as BPA found in plastic food packaging) can increase oxidative stress and interfere with normal gene expression, sometimes with effects that extend across generations.^30,31,32
Age: Over time, natural changes in epigenetic patterns (sometimes called “epigenetic drift”) can affect fertility, particularly in sperm quality.³³

Research suggests that clear genetic causes are identified in only around 15–30% of infertile men, suggesting epigenetic factors may play a role in many infertility cases.
Encouragingly, many of these factors are within your control. Supporting your body with a balanced diet, prioritising sleep, managing stress, and reducing exposure to toxins can all help create a healthier environment for gene expression. In some cases, targeted nutrients such as folate, omega-3s, CoQ10, and antioxidants may also support egg and sperm health.
This may be particularly important for male fertility. Unlike women, who are born with all their eggs, men are constantly producing new sperm. Sperm development takes around 2–3 months, meaning lifestyle changes can directly influence sperm quality over a relatively short period of time.

While these changes can’t override genetics entirely, they can play a meaningful role in optimising fertility, giving you a more proactive way to support your reproductive health.

Conclusion

Genetics can play an important role in fertility, sometimes helping explain challenges or highlight potential risks. However, they’re still just one part of a much bigger picture. Fertility is complex, often shaped by a combination of genetics, lifestyle, environment, and overall health.
Understanding your family history, recognising when to seek advice, and supporting your body through nutrition and lifestyle can all make a meaningful difference. Small, consistent changes – alongside the right medical guidance when needed – can help you feel more informed and in control.

If you have concerns about genetic factors or fertility, speaking to your GP or a fertility specialist can be a helpful next step. And remember, there are a range of tools, treatments, and supportive options available to guide you.

Key Takeaways

Genetics can influence fertility in both women and men, but they are rarely the only factor.
Some inherited conditions, chromosome changes and gene variants may affect reproductive health.
Conditions including PCOS, premature ovarian insufficiency (POI), endometriosis and Turner syndrome have recognised genetic links.
Male fertility can also be affected by Y chromosome microdeletions, Klinefelter syndrome and CFTR mutations.
Having a family history of infertility does not necessarily mean you will experience fertility problems.
Genetic testing may be recommended for recurrent miscarriage, severe male infertility or known inherited conditions.
Lifestyle factors such as diet, smoking, stress and sleep can influence how genes are expressed through epigenetics.