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Am Fam Physician. 2023;107(3):264-272

Patient information: See related handout on polycystic ovary syndrome.

This clinical content conforms to AAFP criteria for CME.

Author disclosure: No relevant financial relationships.

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of childbearing age. Its complex pathophysiology includes genetic and environmental factors that contribute to insulin resistance in patients with this disease. The diagnosis of PCOS is primarily clinical, based on the presence of at least two of the three Rotterdam criteria: oligoanovulation, hyperandrogenism, and polycystic ovaries on ultrasonography. PCOS is often associated with hirsutism, acne, anovulatory menstruation, dysglycemia, dyslipidemia, obesity, and increased risk of cardiovascular disease and hormone-sensitive malignancies (e.g., at least a twofold increased risk of endometrial cancer). Lifestyle modification, including caloric restriction and increased physical activity, is the foundation of therapy. Subsequent management decisions depend on the patient’s desire for pregnancy. In patients who do not want to become pregnant, oral contraceptives are first-line therapy for menstrual irregularities and dermatologic complications such as hirsutism and acne. Antiandrogens such as spironolactone are often added to oral contraceptives as second-line agents. In patients who want to become pregnant, first-line therapy is letrozole for ovulation induction. Metformin added to lifestyle management is first-line therapy for patients with metabolic complications such as insulin resistance. Patients with PCOS are at increased risk of depression and obstructive sleep apnea, and screening is recommended.

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of childbearing age, with a prevalence between 8% and 13%.1 The pathophysiology of PCOS is complex and multifactorial, including genetic and environmental factors that contribute to deficient signaling in the hypothalamic-pituitary-ovarian axis and to ovarian and adrenal hyperandrogenism. Metabolic, dermatologic, and gynecologic features of PCOS are thought to be subsequent manifestations of insulin resistance. This article presents evidence-based answers to common questions about the diagnosis and management of PCOS. Figure 124 and Figure 22,4,5 are algorithms for the diagnosis and management of PCOS.

In 2018, the International PCOS Network unanimously upheld the 2003 Rotterdam diagnostic criteria (Table 1).
Individuals with PCOS have a twofold to threefold increased prevalence of prediabetes and type 2 diabetes mellitus and a nearly fourfold increased prevalence of obstructive sleep apnea compared with those who do not have PCOS.
A 2019 Cochrane review concluded that lifestyle interventions for PCOS may reduce free androgen index, body weight, and body mass index and increase sex hormone–binding globulin levels.
Clinical recommendation Evidence rating Comments
All nonpregnant patients with suspected PCOS should be evaluated for thyroid dysfunction, hyperprolactinemia, and nonclassic congenital adrenal hyperplasia.3 C Expert opinion and consensus guideline in the absence of RCTs
Patients can be evaluated biochemically for hyperandrogenism at least three months after stopping hormonal contraception.4 C Expert opinion and consensus guideline in the absence of RCTs
All patients with PCOS should be evaluated for metabolic abnormalities (e.g., dyslipidemia, hypertension, dysglycemia).4,1820 C Expert opinion and consensus guideline in the absence of RCTs
A calorie-restricted diet is recommended for all patients with PCOS who are overweight.3,4,25,26 A Consistent evidence from RCTs showing improved outcomes, including fertility and metabolic parameters
Metformin in a daily dosage of 1,500 mg or higher should be offered to patients with PCOS and metabolic abnormalities (e.g., dysglycemia, dyslipidemia).4,28 B Consistent evidence from RCTs showing improved outcomes, although likely inferior to lifestyle modification, especially for prevention of diabetes mellitus
Hormonal contraception (e.g., oral contraceptives) should be used as the initial treatment for menstrual cycle irregularity, hirsutism, and acne in patients with PCOS who do not want to become pregnant.4,29 A Consistent evidence from RCTs showing improved outcomes
Letrozole is the first-line drug therapy for patients with PCOS seeking ovulation induction.4,33 A Consistent evidence from RCTs showing improved outcomes for ovulation rate, pregnancy rate, and live birth rate

How Does PCOS Present?

Patients with PCOS may be asymptomatic, or they may have multiple metabolic, dermatologic, or gynecologic manifestations. Patients often present with signs of hyperandrogenism, irregular menses, or infertility.3,4 PCOS may be suspected after the incidental discovery of multiple ovarian cysts on ultrasonography, although most patients with incidentally detected polycystic ovaries on imaging do not have PCOS.

EVIDENCE SUMMARY

In a meta-analysis of 24 studies of unselected adult women, approximately 13% had hirsutism, 11% had hyperandrogenemia, 28% had polycystic ovaries, and 15% had oligoanovulation.6 Polycystic ovaries are often nonpathologic, found in as many as 62% of patients with normal ovulation; this percentage declines with age.7 Even without PCOS, 9% to 14% of women of childbearing age have irregular menses, 10% have hirsutism, and 12% have infertility (i.e., the failure to conceive within 12 months of initiating unprotected intercourse).810 The prevalence of these conditions in the general population underscores the importance of meeting more than one of the Rotterdam criteria for diagnosis of PCOS.

What Is the Recommended Diagnostic Evaluation?

A clinical diagnosis of PCOS can generally be made with a history, a physical examination, and basic laboratory testing. There is no single diagnostic test for PCOS. Instead, clinical criteria are used, most commonly the 2003 Rotterdam criteria (Table 1). 4,1114 After disorders with overlapping features have been excluded, the diagnosis of PCOS in adults requires the presence of at least two of the three Rotterdam criteria: oligoanovulation, hyperandrogenism, and polycystic ovaries on ultrasonography.

Clinical findingAdults (must have any two of the findings marked below)Adolescents (must have both of the findings marked below)*
OligoanovulationXX
HyperandrogenismXX
Polycystic ovaries on ultrasonography§X

At a minimum, nonpregnant patients with suspected PCOS should undergo evaluation to exclude thyroid dysfunction, hyperprolactinemia, and nonclassic congenital adrenal hyperplasia.3 Further laboratory and imaging evaluation depends on the patient’s presentation (Figure 124 and Table 23,14).

DiagnosisTesting
AcromegalyInsulin-like growth factor 1 level
Androgen-secreting tumorCalculated free testosterone level, free androgen index, or calculated bioavailable testosterone level, ideally using high-quality measurement techniques such as liquid chromatography–mass spectrometry or extraction chromatography immunoassays
Dehydroepiandrosterone sulfate
Cushing syndromeCortisol level (saliva or urine) or dexamethasone suppression test
Exogenous androgensInhibin B level
Genetic defects in insulin actionA1C level, oral glucose tolerance test
HyperprolactinemiaProlactin level
Nonclassic congenital adrenal hyperplasia17-hydroxyprogesterone level (measurement taken in the morning, preferably during follicular phase)
Primary hypothalamic amenorrheaFollicle-stimulating hormone, luteinizing hormone, and estradiol levels, ideally on day 3
Primary ovarian insufficiencyFollicle-stimulating hormone and estradiol levels
Thyroid diseaseThyroid-stimulating hormone level using third-generation test

EVIDENCE SUMMARY

In 2018, the International PCOS Network unanimously upheld the 2003 Rotterdam criteria for diagnosis of PCOS.4 Hyperandrogenism can be diagnosed clinically in female patients by the presence of excessive acne, androgenic alopecia, hirsutism (terminal hair in a male-pattern distribution), or seborrhea.3,13 Patients can be evaluated biochemically for hyperandrogenism at least three months after stopping hormonal contraception.4,14

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