Polycystic ovary syndrome (PCOS) is a problem with hormones that happens during the reproductive years. With PCOS, many small sacs of fluid develop along the outer edge of the ovary. These are called cysts. The small fluid-filled cysts contain immature eggs. These are called follicles. The follicles fail to regularly release eggs.

PCOS is one of the most common causes of infertility in women and people assigned female at birth (AFAB). It can also increase your risk of other health conditions. Women and people AFAB can get PCOS any time after puberty. Most people are diagnosed in their 20s or 30s when they’re trying to get pregnant. You may have a higher chance of getting PCOS if you have obesity or if other people in your biological family have PCOS. PCOS is very common — up to 15% of women and people AFAB of reproductive age have PCOS.

Definition

Polycystic Ovary Syndrome (PCOS) is a hormonal disorder that affects women of reproductive age. It is a common endocrine disorder characterized by a combination of symptoms and physical manifestations, including irregular menstrual cycles, excess androgen (male hormone) levels, and the development of small fluid-filled sacs or cysts on the ovaries.

Pathophysiology

The pathophysiology of Polycystic Ovary Syndrome (PCOS) is complex and not fully understood. It involves a combination of genetic, hormonal, and metabolic factors that contribute to the development and progression of the disorder.

One of the key features of PCOS is the presence of insulin resistance. Insulin resistance occurs when the body’s cells become less responsive to the effects of insulin, a hormone that regulates glucose metabolism. As a result, the pancreas produces higher levels of insulin to compensate for the reduced cellular response. Elevated insulin levels, known as hyperinsulinemia, can stimulate the ovaries to produce excess androgens, particularly testosterone. This excessive androgen production is a hallmark of PCOS.

The increased androgen levels disrupt the normal hormonal balance in the ovaries, leading to a disturbance in the maturation and release of eggs (ovulation). Normally, the ovary develops multiple follicles, and one dominant follicle releases a mature egg during each menstrual cycle. However, in PCOS, the excess androgens interfere with this process, resulting in the formation of multiple small fluid-filled sacs or cysts on the ovaries. These cysts are often visible on ultrasound imaging.

Etiology

The exact causes of Polycystic Ovary Syndrome (PCOS) are not fully understood. It is believed that PCOS is a complex disorder influenced by a combination of genetic, hormonal, and environmental factors.

  1. Genetic Factors: There appears to be a genetic component to PCOS. Studies have shown that PCOS tends to run in families, suggesting a hereditary link. Certain gene variations may be associated with an increased risk of developing PCOS. However, the specific genes involved and their precise roles in PCOS are still under investigation.
  2. Hormonal Imbalances: Hormonal imbalances play a significant role in PCOS. Women with PCOS often have elevated levels of androgens (male hormones), such as testosterone, in their bodies. These increased androgen levels can disrupt the normal ovulation process and contribute to the development of PCOS symptoms. Additionally, there may be abnormalities in other hormones, such as luteinizing hormone (LH), follicle-stimulating hormone (FSH), and insulin, which can further exacerbate the hormonal disturbances seen in PCOS.
  3. Insulin Resistance: Insulin resistance is commonly associated with PCOS. Insulin resistance occurs when the body’s cells become less responsive to the effects of insulin, leading to elevated insulin levels in the blood. This insulin resistance can stimulate the ovaries to produce more androgens. The link between insulin resistance and PCOS is thought to be bidirectional, as excess androgens can also contribute to insulin resistance. Insulin resistance is often seen in women with obesity, which is a common comorbidity in PCOS cases.
  4. Environmental Factors: Certain environmental factors may contribute to the development of PCOS. Exposure to endocrine-disrupting chemicals (EDCs) has been hypothesized as a potential risk factor for PCOS. These chemicals, found in some plastics, pesticides, and other consumer products, can interfere with the body’s hormonal regulation and potentially contribute to the hormonal imbalances seen in PCOS. However, more research is needed to understand the exact impact of environmental factors on the development of PCOS.
  5. Low-grade Inflammation: White blood cells make substances in response to infection or injury. This response is called low-grade inflammation. Research shows that people with PCOS have a type of long-term, low-grade inflammation that leads polycystic ovaries to produce androgens. This can lead to heart and blood vessel problems.

Risk Factors

  1. Family History: PCOS tends to run in families, suggesting a genetic predisposition. If a close female relative, such as a mother or sister, has PCOS, the risk of developing the syndrome may be higher.
  2. Obesity: Obesity is a significant risk factor for PCOS. Excess body weight and obesity can contribute to hormonal imbalances and insulin resistance, both of which are associated with PCOS. It is estimated that approximately 50-60% of women with PCOS are overweight or obese.
  3. Insulin Resistance: Insulin resistance, a condition in which the body’s cells do not respond properly to insulin, is commonly seen in PCOS. Women with insulin resistance are at a higher risk of developing PCOS. Conversely, the presence of PCOS can further exacerbate insulin resistance, leading to a vicious cycle.
  4. Sedentary Lifestyle: Lack of physical activity and a sedentary lifestyle are associated with an increased risk of PCOS. Regular exercise has been shown to improve insulin sensitivity, regulate hormone levels, and help manage weight, reducing the risk of developing PCOS or mitigating its symptoms.
  5. Ethnicity: Studies have suggested that certain ethnic groups may have a higher prevalence of PCOS. For example, women of South Asian, Middle Eastern, and Hispanic descent may have a higher risk compared to other populations. However, more research is needed to fully understand the relationship between ethnicity and PCOS.
  6. Hormonal Imbalances: Conditions associated with hormonal imbalances, such as hyperandrogenism or elevated levels of androgens, can increase the risk of developing PCOS. These imbalances may be present due to various factors, including genetic predisposition or other endocrine disorders.
  7. Age: PCOS can develop at any age after puberty, but the risk may be higher in younger women. The exact relationship between age and PCOS risk is still being explored.

Signs & Symptoms                                     

  1. Irregular Periods: Having few menstrual periods or having periods that aren’t regular are common signs of PCOS. So is having periods that last for many days or longer than is typical for a period. For example, you might have fewer than nine periods a year. And those periods may occur more than 35 days apart. You may have trouble getting pregnant.
  2. Too Much Androgen: High levels of the hormone androgen may result in excess facial and body hair. This is called hirsutism. Sometimes, severe acne and male-pattern baldness can happen, too.
  3. Polycystic Ovaries: Your ovaries might be bigger. Many follicles containing immature eggs may develop around the edge of the ovary. The ovaries might not work the way they should.
  4. Abnormal Hair Growth: You may grow excess facial hair or experience heavy hair growth on your arms, chest and abdomen (hirsutism). This affects up to 70% of people with PCOS.
  5. Acne: PCOS can cause acne, especially on your back, chest and face. This acne may continue past your teenage years and may be difficult to treat.
  6. Obesity: Between 40% and 80% of people with PCOS have obesity and have trouble maintaining a weight that’s healthy for them.
  7. Darkening of the Skin: You may get patches of dark skin, especially in the folds of your neck, armpits, groin (between the legs) and under your breasts. This is known as acanthosis nigricans.
  8. Cysts: Many people with PCOS have ovaries that appear larger or with many follicles (egg sac cysts) on ultrasound.
  9. Skin Tags: Skin tags are little flaps of extra skin. They’re often found in your armpits or on your neck.
  10. Thinning Hair: People with PCOS may lose patches of hair on their head or start to bald.
  11. Infertility: PCOS is the most common cause of infertility in people AFAB. Not ovulating regularly or frequently can result in not being able to conceive.
  12. Headaches: Hormone changes can trigger headaches in some women.

Types

  1. Classic PCOS: This is the most common type of PCOS and is characterized by the presence of all three diagnostic criteria according to the Rotterdam criteria: irregular or absent menstrual cycles, clinical or biochemical signs of hyperandrogenism, and polycystic ovaries on ultrasound. Women with classic PCOS typically experience irregular menstrual cycles, signs of excess androgen such as hirsutism and acne, and may have multiple small cysts on their ovaries.
  2. Ovulatory PCOS: In this type, women with PCOS have irregular or absent menstrual cycles but do not exhibit signs of hyperandrogenism. They may still have polycystic ovaries on ultrasound. Ovulatory PCOS can be more challenging to diagnose as the absence of hyperandrogenism may lead to a delay in recognizing the condition.
  3. Non-Hyperandrogenic PCOS: This type of PCOS is characterized by irregular menstrual cycles and the presence of polycystic ovaries, but without the signs of hyperandrogenism. These women may not have significant hair growth or acne, but they still experience hormonal imbalances and ovarian dysfunction associated with PCOS.
  4. Post-Pill PCOS: Some women may develop PCOS-like symptoms after discontinuing the use of oral contraceptive pills (birth control pills). These symptoms may include irregular menstrual cycles, acne, and other manifestations of hormonal imbalance. This type of PCOS is believed to be related to the hormonal changes that occur after discontinuing hormonal contraception.

Diagnosis

  1. Medical History: The healthcare provider will begin by discussing the woman’s medical history, including menstrual patterns, symptoms of hyperandrogenism (such as hirsutism and acne), and any fertility-related concerns. It is important to provide details about the regularity of menstrual cycles, the length of periods, and the presence of any other symptoms related to PCOS.
  2. Physical Examination: A physical examination will be conducted to assess for signs of hyperandrogenism, such as excess hair growth, acne, and male-pattern baldness. The healthcare provider will also examine the abdomen to check for enlarged ovaries or the presence of ovarian cysts. Blood pressure and body mass index (BMI) may also be assessed.
  3. Laboratory Tests: Various laboratory tests may be ordered to evaluate hormone levels and rule out other potential causes of the symptoms. These tests may include:
    • Hormone Testing: Blood tests may be performed to measure levels of hormones such as luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone. Elevated levels of testosterone and a higher LH-to-FSH ratio are commonly seen in PCOS.
    • Glucose and Insulin Levels: Blood tests may be done to assess fasting glucose levels and insulin levels. Elevated insulin levels or impaired glucose tolerance may indicate insulin resistance, which is commonly associated with PCOS.
    • Lipid Profile: Blood tests to measure lipid levels, including triglycerides and cholesterol, may be conducted to evaluate metabolic abnormalities commonly seen in PCOS.
    • Ultrasound Examination: Pelvic ultrasound may be performed to visualize the ovaries and assess for the presence of multiple small cysts. However, it is important to note that the presence of polycystic ovaries alone is not sufficient for a PCOS diagnosis, as other factors need to be considered.

Treatment

  • Lifestyle Modifications
    1. Healthy Diet: A balanced diet with a focus on whole grains, lean proteins, fruits, vegetables, and healthy fats is recommended. It is beneficial to limit processed foods, sugary snacks, and drinks. Maintaining a calorie-controlled diet may help manage weight and improve insulin sensitivity.
    2. Regular Exercise: Engaging in regular physical activity helps improve insulin sensitivity, manage weight, and reduce symptoms associated with PCOS. A combination of aerobic exercise and strength training is often recommended.
  • Medications
    1. Oral Contraceptives: Birth control pills containing both estrogen and progestin can regulate menstrual cycles, reduce androgen levels, and help manage symptoms such as acne and hirsutism.
    2. Anti-Androgen Medications: These medications block the effects of androgens and can help manage symptoms like excess hair growth (hirsutism) and acne.
    3. Insulin-Sensitizing Medications: Medications such as metformin can improve insulin sensitivity and help regulate menstrual cycles. They may be prescribed to manage metabolic abnormalities associated with PCOS, particularly in cases of insulin resistance and impaired glucose tolerance.
    4. Fertility Medications: Women seeking to conceive may be prescribed medications such as clomiphene citrate or letrozole to induce ovulation. In more severe cases, assisted reproductive technologies like in vitro fertilization (IVF) may be considered.
  • Surgery: Surgery can be an option to improve fertility if other treatments don’t work. Ovarian drilling is a procedure that makes tiny holes in the ovary with a laser or thin heated needle to restore normal ovulation.

Complications

  1. Infertility: PCOS is one of the leading causes of female infertility. Hormonal imbalances and irregular ovulation can make it difficult for women with PCOS to conceive. However, with appropriate medical intervention, many women with PCOS can achieve successful pregnancies.
  2. Gestational Diabetes: Pregnant women with PCOS have an increased risk of developing gestational diabetes, a form of diabetes that occurs during pregnancy. Gestational diabetes can have implications for both the mother and the baby, and close monitoring and management are necessary.
  3. Type 2 Diabetes: Women with PCOS are at a higher risk of developing type 2 diabetes later in life. Insulin resistance, a common feature of PCOS, can progress to impaired glucose tolerance and eventually to type 2 diabetes if left unmanaged. Regular monitoring of blood glucose levels and adopting a healthy lifestyle are essential in reducing the risk of developing diabetes.
  4. Metabolic Syndrome: PCOS is associated with metabolic abnormalities, including insulin resistance, dyslipidemia (abnormal blood lipid levels), and obesity. These factors increase the risk of developing metabolic syndrome, a cluster of conditions that includes high blood pressure, high blood sugar, abnormal cholesterol levels, and excess abdominal fat. Metabolic syndrome further increases the risk of cardiovascular disease.
  5. Endometrial Cancer: Women with PCOS have a higher risk of developing endometrial (uterine) cancer due to chronic anovulation (lack of regular ovulation) and prolonged exposure to unopposed estrogen. Maintaining regular menstrual cycles or using hormonal contraceptives can help reduce this risk.
  6. Depression and Anxiety: PCOS can have psychological implications, including increased risk for depression and anxiety. The hormonal imbalances, physical symptoms, and challenges related to fertility can contribute to emotional distress. It is important for women with PCOS to seek appropriate support and care for their mental well-being.
  7. Sleep Apnea: There is an increased prevalence of sleep apnea in women with PCOS, which is thought to be related to hormonal and metabolic disturbances. Sleep apnea can have significant health consequences and should be properly evaluated and managed.

Prevention

  1. Maintaining a Healthy Weight: Obesity and excess body weight are risk factors for PCOS and can worsen symptoms and complications. Adopting a healthy lifestyle that includes regular physical activity and a balanced diet can help manage weight and improve insulin sensitivity.
  2. Regular Exercise: Engaging in regular physical activity can help improve insulin sensitivity, regulate hormone levels, and manage weight. Aim for at least 150 minutes of moderate-intensity aerobic exercise, such as brisk walking or cycling, per week, along with strength training exercises.
  3. Healthy Diet: Following a balanced diet that is rich in fruits, vegetables, whole grains, lean proteins, and healthy fats can support overall health and potentially help manage PCOS-related symptoms. Limiting processed foods, sugary snacks, and drinks is important in maintaining a healthy diet.
  4. Avoidance of Endocrine-Disrupting Chemicals (EDCs): Exposure to certain endocrine-disrupting chemicals, found in plastics, pesticides, and other consumer products, has been suggested as a potential risk factor for PCOS. Minimizing exposure to these chemicals by using glass or stainless-steel containers, choosing organic foods, and reducing the use of personal care products with potentially harmful ingredients can be beneficial.
  5. Regular Check-ups and Screenings: Regular medical check-ups can help monitor hormone levels, metabolic health, and overall well-being. Early detection and management of conditions such as insulin resistance, dyslipidemia, and other metabolic abnormalities associated with PCOS can help reduce the risk of complications.
  6. Psychological Support: PCOS can have emotional and psychological implications. Seeking support from mental health professionals and participating in counseling or support groups can help manage stress, improve coping mechanisms, and address any psychological challenges associated with PCOS.

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