Diagnostic and prognostic biomarkers in Polycystic Ovary Syndrome

Abstract

Polycystic Ovary Syndrome (PCOS) is most common reproductive- endocrine disorder with extensive clinical phenotypes. It is characterized by hyperandrogenism, anovulation, and polycystic ovarian morphology. Despite its high prevalence globally, the etiology of PCOS remains unresolved. The clinical diagnosis remains largely based on heterogeneous clinical criteria rather than objective molecular indicators. This variability often leads to delayed or inaccurate diagnosis. There is a critical need to identify reliable biomarkers that can support early and precise detection. This review summarizes current findings on a broad spectrum of biomarkers associated with PCOS, drawing from peer-reviewed literature spanning the last two decades. We categorized the biomarkers into five major domains: hormonal, metabolic, oxidative stress, inflammatory, and microRNA-related biomarkers. Hormonal disturbances include high luteinizing hormone (LH) to follicle-stimulating hormone (FSH) ratios and elevated Anti Müllerian hormone (AMH) are important biomarkers for reproductive disturbance in PCOS. Metabolic markers, including insulin, triglycerides, apolipoprotein B, and decreased sex hormone-binding globulin (SHBG) levels, represent patterns of insulin resistance and dyslipidemia. The shift in an adipokine profile with elevated leptin and lower adiponectin levels highlights metabolic dysfunction. Biomarkers of oxidative stress, such as malondialdehyde (MDA), nitric oxide, indicate a pro-oxidant-antioxidant imbalance. Chronic systemic inflammation is also observed as inflammatory markers (CRP and TNF-α) were present. These biomarkers collectively reveal molecular aspects of PCOS and suggest innovative opportunities for diagnostic accuracy enhancement and personalized therapeutic approaches. Our review highlights the need for the incorporation of multi-dimensional biomarker profiles in clinical practice to improve the capture of the heterogeneity of PCOS.

Keywords: Biomarker; Cytokines; Hyperandrogenism; Oxidative stress; Polycystic ovarian syndrome (PCOS).