What is the diagnostic workup and treatment for a patient with suspected Polycystic Ovary Syndrome (PCOS) without an implant?

Diagnostic Workup and Treatment for Suspected PCOS

Diagnose PCOS using the Rotterdam criteria, requiring at least two of three features: clinical or biochemical hyperandrogenism, ovulatory dysfunction (cycles >35 days), or polycystic ovarian morphology on ultrasound (≥20 follicles per ovary or ovarian volume ≥10mL). 1, 2, 3

Clinical History Assessment

Document the following specific elements:

• Menstrual pattern: Record exact cycle length and regularity, as cycles >35 days indicate chronic anovulation 1, 2
• Androgen excess timeline: Note whether hirsutism, acne, or alopecia developed gradually (suggests PCOS) versus rapidly (suggests androgen-secreting tumor) 1, 2
• Medication review: Specifically ask about exogenous androgen use 1, 2
• Lifestyle factors: Document diet quality, exercise frequency, alcohol consumption, and smoking status 1, 2
• Family history: Record cardiovascular disease, diabetes, and reproductive disorders in first-degree relatives 1, 2

Physical Examination

Perform targeted assessment for:

• Hyperandrogenism signs: Evaluate acne distribution, male-pattern balding (temporal recession), hirsutism using standardized scoring, and clitoromegaly 1, 2
• Insulin resistance markers: Look for acanthosis nigricans (neck, axillae, groin) 1, 2
• Body measurements: Calculate BMI and waist-hip ratio 1, 2
• Cushing's syndrome screening: Check for buffalo hump, moon facies, and wide purple abdominal striae 1
• Pelvic examination: Assess for ovarian enlargement 1

Laboratory Testing

Order the following tests to confirm diagnosis and exclude mimicking disorders:

Hormonal Evaluation

• Total testosterone or free/bioavailable testosterone: Use mass spectrometry method to document hyperandrogenism 1, 2
• Sex hormone-binding globulin (SHBG): Helps calculate free androgen index 1
• TSH: Exclude thyroid disease as cause of menstrual irregularity 1, 2
• Prolactin: Rule out hyperprolactinemia 1, 2
• 17-hydroxyprogesterone: Exclude nonclassic congenital adrenal hyperplasia 2

Metabolic Evaluation

• 2-hour oral glucose tolerance test with 75g glucose load: Screen all PCOS patients regardless of BMI for type 2 diabetes and glucose intolerance 1, 2
• Fasting lipid profile: Assess total cholesterol, LDL, HDL, and triglycerides 1, 2

Imaging Studies

Use transvaginal ultrasound as first-line imaging with an 8MHz or higher transducer. 1, 2

• Follicle count: Look for ≥20 follicles measuring 2-9mm per ovary (note: recent evidence suggests ≥20 follicles, though some sources cite ≥25) 4, 1
• Ovarian volume: Measure three dimensions of each ovary; ≥10mL suggests polycystic ovarian morphology 4, 1, 2
• Alternative imaging: Use transabdominal ultrasound focusing on ovarian volume ≥10mL threshold when transvaginal approach is not feasible 1, 2
• MRI pelvis without contrast: Consider when ovaries cannot be adequately visualized by ultrasound 4, 1

Important caveat: Ultrasound findings alone are insufficient for diagnosis, as polycystic ovarian morphology may be present in up to one-third of reproductive-aged women without PCOS. 4, 1

Diagnostic Algorithm

1. Confirm at least two Rotterdam criteria are present: hyperandrogenism (clinical or biochemical), ovulatory dysfunction, and/or polycystic ovarian morphology 2, 3
2. Exclude alternative diagnoses through targeted testing: thyroid disease, hyperprolactinemia, nonclassic congenital adrenal hyperplasia, Cushing's syndrome, androgen-secreting tumors, acromegaly, and primary ovarian failure 1, 2
3. Document the specific phenotype (1 of 4 recognized phenotypes) as this has different long-term health implications 5

Treatment Approach

Treatment depends on the patient's primary concerns and goals:

For Menstrual Irregularities and Hyperandrogenism

Hormonal contraceptives are first-line therapy for menstrual abnormalities, hirsutism, and acne. 3

For Infertility

Clomiphene is first-line therapy for ovulation induction. 3

For Metabolic Abnormalities

Metformin is beneficial for metabolic/glycemic abnormalities and improving menstrual irregularities, but has limited benefit for hirsutism, acne, or infertility. 3

For Overweight/Obese Patients

Lifestyle intervention with diet modification and increased physical activity is beneficial for metabolic health, though its role in improving PCOS status per se remains uncertain. 3, 6

Critical Pitfalls to Avoid

• Do not use serum AMH levels as a single diagnostic test despite emerging evidence 1
• Do not diagnose PCOS based on ultrasound findings alone given high prevalence of polycystic ovarian morphology in normal women 4, 1
• Monitor for endometrial cancer risk in patients with chronic anovulation, particularly those with obesity and hyperinsulinemia 1, 2
• Avoid using ovarian ultrasonography in adolescents <8 years post-menarche due to high incidence of polycystic ovarian morphology during normal development 4
• Screen for associated conditions: glucose intolerance, type 2 diabetes, dyslipidemia, hypertension, hepatic steatosis, obstructive sleep apnea, and mood disorders 5, 3