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 1^2–4 and Figure 2^2,4,5 are algorithms for the diagnosis and management of PCOS.

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).^8–10 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). ^4,11–14 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.

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 1^2–4 and Table 2^3,14).

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