What are the symptoms and treatment options for Polycystic Ovary Syndrome (PCOS)?

PCOS Symptoms and Management

PCOS presents with irregular menstrual cycles, signs of excess androgens (hirsutism, acne, male-pattern hair loss), and metabolic dysfunction including insulin resistance—all women with PCOS require metabolic screening regardless of body weight. 1, 2

Clinical Symptoms

Reproductive and Hormonal Manifestations

• Menstrual irregularities occur as oligomenorrhea or amenorrhea due to oligo- or anovulation 2, 3
• Hyperandrogenism affects 60-80% of patients, manifesting as hirsutism, acne, and male-pattern balding 2, 4
• Infertility is common due to anovulatory cycles 3, 5

Metabolic Features

• Insulin resistance affects 50-70% of women with PCOS, occurring independently of BMI in both lean and overweight women 1, 3
• Acanthosis nigricans appears on the neck, axillae, under breasts, and vulva as a visible marker of insulin resistance 1, 2, 6
• Weight gain and obesity, particularly central obesity, with accelerated weight gain starting in adolescence and continuing through early adulthood 7
• Glucose intolerance and type 2 diabetes develop at higher rates than in unaffected women 1, 3

Cardiovascular and Metabolic Comorbidities

• Dyslipidemia with elevated triglycerides, increased small dense LDL, and decreased HDL 1
• Hypertension and increased cardiovascular risk factors 2, 3
• Metabolic syndrome occurs more frequently 3

Psychological Manifestations

• Depression, anxiety, bipolar disorder, and binge eating disorder occur more frequently in women with PCOS 3
• Body image dissatisfaction, low self-esteem, and psychological distress are common, particularly when excess weight is present 7

Diagnostic Workup

Required Criteria

Diagnosis requires at least 2 of 3 Rotterdam criteria after excluding other causes: 6

• Hyperandrogenism (clinical or biochemical)
• Ovulatory dysfunction (oligo- or anovulation)
• Polycystic ovarian morphology on ultrasound

Essential Laboratory Tests

• Testosterone (total or free) using mass spectrometry (LC-MS/MS) for superior specificity (92% vs 78% for immunoassays) 6
• TSH to exclude thyroid disease 2, 6
• Prolactin to exclude hyperprolactinemia 2, 6
• 17-hydroxyprogesterone to exclude congenital adrenal hyperplasia 6
• 2-hour oral glucose tolerance test (75g) to detect type 2 diabetes and glucose intolerance, regardless of BMI 1, 2, 6
• Fasting lipid profile including total cholesterol, LDL, HDL, and triglycerides 1, 2

Physical Examination

• BMI and waist-to-hip ratio to assess central obesity 1, 6
• Acanthosis nigricans examination (neck, axillae, under breasts, vulva) 1, 6
• Blood pressure monitoring for hypertension screening 2

Treatment Algorithm

First-Line: Lifestyle Intervention (All Patients)

Initiate multicomponent lifestyle intervention before or concurrent with any pharmacologic therapy—this is the foundation of treatment. 1

• Target 5% weight loss of initial body weight, which improves metabolic parameters, ovulation rates, and pregnancy outcomes 1
• Implement diet, exercise, and behavioral strategies together rather than any single component 1
• Monitor weight regularly as this is associated with better short- and long-term outcomes 7
• Physical activity recommendations: 7
  • Weight maintenance: 150+ minutes/week moderate OR 75+ minutes/week vigorous activity
  • Weight loss: 300+ minutes/week moderate OR 150+ minutes/week vigorous activity
  • Include weight training 2x per week

For Patients NOT Attempting Conception

Combination oral contraceptive pills (COCs) are first-line therapy for menstrual regulation, endometrial protection, and androgen suppression 1, 2, 5

• COCs regulate menstrual cycles and provide endometrial protection 2
• COCs suppress androgen secretion and help manage acne and hirsutism 2, 5
• Be aware COCs may increase triglycerides and HDL cholesterol, though no evidence shows increased cardiovascular events compared to general population 1

Metabolic Management

Metformin is the preferred insulin-sensitizing agent when pharmacologic intervention is warranted (despite lack of FDA approval specifically for PCOS) 1, 2

• Metformin decreases circulating androgen levels through improved insulin sensitivity 1
• Metformin improves or maintains glucose tolerance over time 1
• Metformin improves ovulation rates and metabolic outcomes 1, 2
• Metformin tends to decrease weight, unlike thiazolidinediones which increase weight 1

For Patients Attempting Conception

Letrozole (aromatase inhibitor) is first-line treatment for PCOS-related anovulation 5

• Clomiphene citrate is approximately 80% effective in inducing ovulation, with half of these women conceiving 2
• Gonadotropin-releasing hormone analogues are also used to induce ovulation 5

Hirsutism Management

• Topical cosmetic treatments as initial approach 5
• Spironolactone for moderate to severe hirsutism 3, 5
• Finasteride as alternative antiandrogen therapy 3, 5

Common Pitfalls

• Do not overlook acanthosis nigricans—it may indicate associated insulinoma or malignancy, particularly gastric adenocarcinoma 1
• Do not skip metabolic screening in lean women—insulin resistance occurs independently of BMI 1
• Do not use thiazolidinediones as first-line agents given their tendency to increase weight compared to metformin 1
• Do not delay diagnosis in adolescents—symptoms are often attributed to normal pubertal events, leading to delayed diagnosis and treatment 8
• Do not use ultrasound for diagnosis in patients with gynecological age <8 years due to high incidence of multifollicular ovaries at this stage 6
• Do not use serum anti-Müllerian hormone (AMH) levels as an alternative for detecting polycystic ovarian morphology or as a single diagnostic test 6