INTEGRATION OF ULTRASOUND BIOMARKERS AND GENETIC PROFILING FOR EARLY DETECTION OF POLYCYSTIC OVARY SYNDROME: MOLECULAR AND PRECISION MEDICINE PERSPECTIVES

Abstract

Background: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine and metabolic disorder with a strong genetic and molecular basis, affecting women of reproductive age and contributing to significant reproductive and metabolic complications.

Objective: This review aims to summarize current advances in the integration of ultrasound biomarkers and genetic profiling for early detection of PCOS within the framework of precision medicine.

Materials and Methods: A systematic analysis of recent literature was conducted using major international databases, including PubMed, Web of Science, Scopus, and MEDLINE. Studies focusing on ultrasound diagnostics, molecular genetics, and integrative approaches in PCOS were included.

Results: Advances in ultrasound technologies, including three-dimensional imaging and automated follicular assessment, have improved the sensitivity and reproducibility of morphological evaluation. At the molecular level, genetic variations in insulin signaling pathways (IRS-1, PI3K, AKT), steroidogenesis-related genes, mitochondrial dysfunction, and epigenetic modifications play a key role in the pathogenesis and phenotypic heterogeneity of PCOS. The integration of imaging biomarkers with genomic and transcriptomic data enables the development of predictive models for early diagnosis, risk stratification, and identification of subclinical disease forms.

Conclusion: The combination of ultrasound biomarkers and genetic profiling represents a promising strategy for improving early detection of PCOS. Integrative multi-omics approaches enhance diagnostic accuracy and support the transition toward personalized and precision medicine in reproductive endocrinology.