GENETIC AND HORMONAL INTERACTIONS IN POLYCYSTIC OVARY SYNDROME: A TRANSLATIONAL RESEARCH APPROACH

Abstract

Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by complex interactions between genetic susceptibility, hormonal dysregulation, and metabolic disturbance. This translational research aimed to investigate the interplay between SNP-level genetic variations and hormonal profiles to understand how these factors collectively influence PCOS severity and phenotypic expression. Using an integrated mixed-methods approach combining genomic analysis, endocrine biomarker quantification, metabolic assessment, and ultrasound-based ovarian morphology evaluation, the study identified significant associations between high-risk genotypes and elevated androgen levels, disrupted LH/FSH ratios, and increased AMH concentrations. Metabolic indicators such as fasting insulin, glucose, and HOMA-IR further correlated with specific genetic clusters, suggesting that metabolic dysfunction amplifies hormonally driven reproductive abnormalities. Additionally, qualitative lifestyle and menstrual history analyses revealed that psychosocial stressors and environmental factors further worsen endocrine imbalance. Hybrid statistical models demonstrated that combined genetic–hormonal burdens, rather than isolated biomarkers, serve as stronger predictors of PCOS severity. The findings highlight the necessity of considering multidimensional biological inputs for diagnosis and management, supporting a precision-medicine framework that incorporates genetic screening, hormonal monitoring, and metabolic profiling. Overall, this study reinforces that PCOS is a heterogeneous disorder requiring integrative assessment and opens pathways for targeted, individualized therapeutic strategies that may significantly improve clinical outcomes.