Pathophysiology and diagnostic criteria of PCOS

Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine-metabolic syndrome mainly characterized by ovarian dysfunction, which is only one manifestation of a more complex syndrome with a significant systemic impact.

We review scientific literature on the pathophysiology and diagnosis of PCOS evaluating the most relevant data from original articles, reviews and meta-analyses published until June 2024.

From a pathophysiological point of view, the concurrence of both metabolic aspects, such as insulin resistance and obesity, and hormonal alterations, such as hyperandrogenemia, might produce the most relevant clinical signs and/symptoms of this syndrome, for instance menstrual irregularities, hair loss, acne and hirsutism. In the latest years, many pieces of evidence highlighted the importance of family history and genetics in the development of the syndrome during adolescence and adult life. According to the available data, hypovitaminosis D could play a detrimental role in the pathogenesis and clinical manifestations of PCOS.

PCOS is a challenging endocrine and metabolic dysfunction, due to its different expression among women and to the difficulty in obtaining an accurate diagnosis. The most appropriate approach to women affected by PCOS should involve a multi-step strategy, taking into account the characteristics of each patient, in order to identify the best non-pharmacologic and pharmacologic approach to manage both short- and medium-, and long-term sequelae.