Author: Kate Scott, DipNut, mBANT, rCNHC, mIFM | DNApal co-founder, clinical nutrition & genetics specialist

What is PCOS?

Polycystic Ovary Syndrome (PCOS) is a common hormonal disorder that affects women of reproductive age. It is characterised by a combination of symptoms and hormonal imbalances, and it can have a significant impact on overall health and well-being.

Key Features of PCOS:

1. Hormonal Imbalance: Women with PCOS often have elevated levels of androgens (male hormones like testosterone) and insulin, which can disrupt the regularity of menstrual cycles and affect various bodily functions.
2. Ovarian Cysts: The condition is named after the small cysts (fluid-filled sacs) that can form on the ovaries. However, not all women with PCOS have these cysts, and their presence alone isn’t enough for a diagnosis.
3. Irregular Periods: One of the most common symptoms is irregular or absent menstrual periods, which can affect fertility.
4. Ovulatory Dysfunction: Women with PCOS may experience difficulty ovulating, which can lead to challenges with conception.
5. Symptoms of Excess Androgens: These may include acne, excessive facial or body hair (hirsutism), and scalp thinning.

What Contributes to PCOS?

The exact cause of PCOS is not entirely understood, but several factors are thought to contribute to its progression:

1. Genetics: PCOS often runs in families, suggesting a genetic component.
2. Insulin Resistance: Many women with PCOS have insulin resistance, which means their bodies don’t use insulin effectively, leading to higher blood sugar levels and increased insulin production.
3. Inflammation: Chronic low-grade inflammation is also believed to play a role, affecting how the body responds to insulin.
4. Hormonal Imbalances: Elevated levels of androgens and luteinising hormone (LH) can interfere with normal ovarian function.

Symptoms of PCOS:

• Irregular or absent menstrual cycles.
• Difficulty getting pregnant (infertility).
• Weight gain or difficulty losing weight.
• Acne and oily skin.
• Excess facial and body hair.
• Thinning hair on the scalp.
• Dark patches of skin, often around the neck or underarms.
• Mood swings or depression.

Genetic Interactions and Environmental Factors:

PCOS is likely influenced by multiple genes working together rather than a single genetic mutation. Genetic predisposition combined with environmental factors such as diet, lifestyle, and hormonal changes plays a role in the development of the condition.

Gene-Environment Interaction:

Lifestyle factors like diet and physical activity, as well as exposure to endocrine disruptors, can interact with genetic predispositions to influence the onset and severity of PCOS.

Some of the genes involved in PCOS:

FSHR (Follicle-Stimulating Hormone Receptor) Gene:

• Role: The FSHR gene encodes the receptor for follicle-stimulating hormone (FSH), which is critical for the regulation of the menstrual cycle and ovarian function.
• Association: Variants in the FSHR gene have been associated with altered ovarian response and increased risk of PCOS.

TCF7L2 (Transcription Factor 7-Like 2) Gene:

• Role: TCF7L2 is involved in glucose metabolism and insulin signalling.
• Association: Variants in TCF7L2 have been associated with increased risk of type 2 diabetes and may also contribute to insulin resistance in PCOS.

CYP19A1 (Aromatase) Gene:

• Role: The CYP19A1 gene encodes aromatase, an enzyme responsible for converting androgens into o
• Association: Variants in the CYP19A1 gene may affect oestrogen levels and contribute to the hormonal imbalances observed in PCOS.

MTHFR (Methylenetetrahydrofolate Reductase) Gene:

• Role: The MTHFR gene is involved in folate metabolism and homocysteine regulation.
• Association: Variants in MTHFR can affect metabolic processes and have been studied for their potential link to PCOS, although the evidence is less definitive.

Managing PCOS: Diet, Lifestyle, and Supplements

Diet Tips:

• Focus on Low Glycemic Index (GI) Foods: Low GI foods help maintain stable blood sugar levels. Include vegetables, legumes, nuts, and whole grains in your diet.
• Incorporate Lean Proteins: Opt for lean proteins like chicken, fish, tofu, and legumes to help with weight management and maintain muscle mass.
• Healthy Fats: Include sources of healthy fats such as avocados, nuts, seeds, and olive oil, which can support hormonal balance.
• High-Fibre Foods: Fibre helps manage insulin levels and supports digestive health. Include foods like fruits, vegetables, and whole grains.
• Limit Sugary and Processed Foods: Minimise intake of refined sugars and processed foods, which can worsen insulin resistance and contribute to weight gain.

Lifestyle Tips:

• Regular Exercise: Engage in regular physical activity such as brisk walking, cycling, or strength training. Exercise helps improve insulin sensitivity and aids in weight management.
• Weight Management: Even modest weight loss can improve symptoms and insulin sensitivity. Focus on a balanced diet and consistent exercise.
• Stress Management: Practices like mindfulness, meditation, yoga, or deep-breathing exercises can help manage stress, which may affect hormonal balance.
• Regular Sleep Patterns: Aim for 7-9 hours of quality sleep each night to support overall health and hormonal balance.

Supplement Tips:

• Inositol: Particularly in the form of myo-inositol, this supplement may help improve insulin sensitivity and restore normal ovulatory function.
• Omega-3 Fatty Acids: Found in fish oil or flaxseed oil, omega-3s can help reduce inflammation and support cardiovascular health.
• Vitamin D: Many women with PCOS have low levels of vitamin D. Supplementing with vitamin D can support overall health and hormonal balance.
• Chromium: This mineral may help improve insulin sensitivity and manage blood sugar levels.
• Zinc: Zinc supplementation can support skin health and reduce acne and hair loss associated with PCOS.

By understanding PCOS and your genetic and lifestyle risks, you can implement specific strategies to help manage your symptoms effectively and improve quality of life.

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