Approach to the Patient: Diagnostic Challenges in the Workup for Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) affects 10% to 13% of women globally. It is a condition with metabolic, reproductive, and psychological features, with health impacts across the lifespan. The etiology of PCOS is complex, with an interplay of several factors, including genetic and epigenetic susceptibility, androgen exposure in early life and adiposity-related dysfunction leading to hypothalamic-ovarian disturbance. Diagnosis is recommended based on the International PCOS Guideline criteria, with diagnosis confirmed in adults when 2 of out the following 3 criteria are met: (i) hyperandrogenism (clinical or biochemical); (ii) irregular cycles; and (iii) polycystic ovary morphology or elevated anti-Müllerian hormone (AMH) levels. With its clinical heterogeneity, distinct phenotypes, variation across the lifespan and ethnic variation, PCOS diagnosis can present significant diagnostic challenges to clinicians.