Polycystic Ovary Syndrome (PCOS)

Symptoms

• Irregular menstrual cycles (fewer than 8-9 periods per year or cycles longer than 35 days)
• Absence of periods for 3 or more consecutive months (amenorrhea)
• Excessive hair growth in a male-pattern distribution (hirsutism), such as on the upper lip, chin, chest, or back
• Persistent acne, often resistant to standard treatments
• Male-pattern hair loss or thinning (androgenic alopecia)
• Weight gain or difficulty losing weight, often with excess fat around the waist
• Dark, velvety skin patches, typically in skin folds like the neck, armpits, or groin (acanthosis nigricans), indicating insulin resistance
• Small skin growths (skin tags), often in areas affected by acanthosis nigricans
• Increased prevalence of anxiety, depression, and poor body image
• Sleep apnea, particularly in women who are overweight

Causes & Risk Factors

• The exact cause of PCOS is unknown and is considered multifactorial.
• Genetic predisposition, with multiple susceptibility genes likely involved.
• Environmental factors, primarily obesity and lifestyle.
• Neuroendocrine disruption, leading to altered hormone levels (increased Luteinizing Hormone relative to Follicle-Stimulating Hormone).
• Intrinsic ovarian abnormality resulting in excess androgen production.
• Insulin resistance and hyperinsulinemia, where high insulin levels stimulate androgen production in the ovaries and contribute to irregular ovulation.
• Family history: Having a first-degree relative (mother or sister) with PCOS significantly increases risk.
• Obesity or excess weight, especially central obesity, which can worsen metabolic and reproductive features.
• Insulin resistance, a key feature present in most women with PCOS, regardless of weight.
• Possible exposure to excess androgens in the womb (intrauterine environment).
• Some studies suggest an association with low birth weight.

Diagnosis

• Diagnosis in adults typically uses the Rotterdam criteria (2003), requiring 2 out of 3 of the following, after excluding other conditions:
• Oligo- and/or anovulation (irregular menstrual cycles).
• Clinical (e.g., hirsutism, acne, alopecia) and/or biochemical (blood tests) signs of hyperandrogenism.
• Polycystic ovarian morphology (PCOM) on ultrasound.
• For adolescents, diagnosis requires both hyperandrogenism and oligo/anovulation; ultrasound is not recommended for diagnosis due to common multi-follicular ovaries in normal puberty.
• A detailed medical history, including menstrual history, symptoms of hyperandrogenism, weight history, and family history.
• A physical examination to assess BMI, waist circumference, blood pressure, and signs like hirsutism (using a scoring system like modified Ferriman-Gallwey), acne, alopecia, and acanthosis nigricans.
• Laboratory tests to confirm hyperandrogenism (e.g., total and/or free testosterone, SHBG) and exclude other conditions (e.g., TSH for thyroid, prolactin for hyperprolactinemia, 17-hydroxyprogesterone for congenital adrenal hyperplasia).
• Metabolic screening, including an oral glucose tolerance test (OGTT) for glucose tolerance, or alternatives like HbA1c and fasting glucose, and a fasting lipid profile.
• Transvaginal ultrasound to assess ovarian morphology, with criteria for PCOM being 12 or more follicles (2-9 mm) in each ovary and/or ovarian volume greater than 10 mL. Newer guidelines suggest a threshold of ≥20 follicles per ovary with modern ultrasound technology.

Treatment Options

• Treatment is tailored to individual concerns, such as menstrual irregularity, hirsutism, infertility, or metabolic risks.
• Lifestyle modification, including diet, exercise, and behavioral strategies, is the first-line treatment for all women with PCOS, especially those who are overweight or obese.
• A modest weight loss of 5-10% of body weight can improve menstrual function, insulin sensitivity, and fertility treatment outcomes.
• A balanced, healthy diet with calorie restriction (if weight loss is a goal) and at least 150 minutes of moderate-intensity or 75 minutes of vigorous-intensity exercise per week are recommended.
• Combined oral contraceptive pills (COCPs) are first-line for menstrual irregularity and/or hirsutism/acne in women not seeking pregnancy, as they regulate cycles and reduce androgen effects.
• Metformin may be used as a second-line or adjunct treatment for women with PCOS and type 2 diabetes or impaired glucose tolerance, or considered for menstrual regulation.
• Anti-androgens (e.g., spironolactone, finasteride) are used for hirsutism, often with COCPs, and require effective contraception due to potential harm in pregnancy.
• For infertility, Letrozole is the first-line medication for ovulation induction, preferred over clomiphene citrate due to higher live birth rates.
• Second-line infertility treatments include injectable hormones (gonadotropins) or laparoscopic ovarian surgery (ovarian drilling).
• In vitro fertilization (IVF) is a third-line option for infertility.
• Metformin may be used as an adjunct to ovulation induction, particularly for women with a BMI ≥30 kg/m².
• Laparoscopic ovarian surgery (ovarian drilling) is a surgical procedure for anovulatory infertility, typically considered second-line for those resistant to initial medications.
• Bariatric surgery may be considered for women with PCOS and severe obesity (BMI ≥40 kg/m² or ≥35 kg/m² with comorbidities) when lifestyle changes have not been successful.
• Referral to specialists such as a reproductive endocrinologist for infertility, a medical endocrinologist for complex metabolic issues, a dermatologist for severe skin conditions, a registered dietitian for nutrition, or a mental health professional for anxiety or depression may be indicated.

Frequently Asked Questions