Polycystic Ovary Syndrome (PCOS) overview: epidemiology, pathophysiology, symptoms, diagnosis, treatment, complications, and Future Directions Research

Abstract

Polycystic ovary syndrome (PCOS) is the most prevalent endocrine and metabolic disorder affecting women of reproductive age and is characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology. Its heterogeneous clinical presentation encompasses reproductive, metabolic, and psychological manifestations, making diagnosis and management challenging. The global prevalence of PCOS ranges from approximately 5% to 21%, depending on the diagnostic criteria used, with increasing incidence worldwide highlighting its significance as a major public health concern. The pathophysiology of PCOS is multifactorial, involving complex interactions among genetic susceptibility, insulin resistance, hyperinsulinemia, functional ovarian hyperandrogenism, hypothalamic–pituitary–ovarian axis dysfunction, and environmental influences. Clinical manifestations include menstrual irregularities, infertility, hirsutism, acne, obesity, insulin resistance, and metabolic syndrome, all of which substantially impair quality of life. Diagnosis is based on established criteria, including the Rotterdam, National Institutes of Health (NIH), and Androgen Excess Society (AES) guidelines, after excluding other causes of hyperandrogenism and ovulatory dysfunction. Management requires an individualized, multidisciplinary approach that integrates lifestyle modification with pharmacological therapy according to patients' reproductive goals and metabolic risk factors. Lifestyle interventions, including dietary modification, regular physical activity, and behavioral support, remain the cornerstone of treatment, while medications such as combined oral contraceptives, metformin, letrozole, clomiphene citrate, and anti-androgens are used to address specific clinical manifestations. Women with PCOS are at increased risk of long-term complications, including type 2 diabetes mellitus, cardiovascular disease, endometrial cancer, pregnancy complications, and mental health disorders, necessitating ongoing monitoring and preventive care. Emerging research into biomarkers, gut microbiota, precision medicine, and genetic and epigenetic mechanisms offers promising opportunities for earlier diagnosis and more personalized therapeutic strategies. Continued research is essential to improve clinical outcomes and reduce the long-term burden of PCOS.