Diagnostic Value of Anti-Müllerian Hormone, Hematological Inflammatory Markers, and CYP19A1 Gene Polymorphism in Polycystic Ovary Syndrome: Insights from a South Indian Cohort
Abstract
Background: Polycystic Ovary Syndrome (PCOS) is a prevalent endocrine disorder in reproductive-age women, characterized by ovarian dysfunction, hyperandrogenism, and metabolic disturbances. Current diagnostic methods rely on heterogeneous clinical and biochemical criteria, warranting exploration of reliable hormonal, inflammatory, and genetic biomarkers.
Objective: To evaluate the diagnostic potential of Anti-Müllerian Hormone (AMH), hematological inflammatory indices, and CYP19A1 rs2414096 gene polymorphism in PCOS among South Indian women.
Methods: A prospective cross-sectional study was conducted at St. Gregorios Medical Mission Hospital, Kerala, including 50 women with PCOS and 50 age-matched controls. AMH, FSH, and LH levels were measured, and hematological indices including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and total WBC counts were analyzed. CYP19A1 polymorphism was genotyped using qPCR and validated by Sanger sequencing. Statistical analyses included correlation, ROC curve evaluation, and allele frequency distribution.
Results: AMH levels were significantly elevated in PCOS patients (median 5.75 ng/mL) versus controls (1.87 ng/mL; p < 0.00001). NLR was markedly higher in PCOS (median 2.0 vs. 1.9; p < 0.00001), showing a strong positive correlation with AMH (Rs = 0.7442, p < 0.001). PLR and erythrocytic indices showed limited diagnostic value. ROC analysis demonstrated high accuracy for AMH (AUC > 0.90), while NLR enhanced predictive performance when combined with AMH. The CYP19A1 rs2414096 A allele was selectively observed in PCOS cases, suggesting a genetic predisposition, though statistical power was limited.
Conclusion: AMH and NLR exhibit strong diagnostic potential for PCOS, with combined assessment improving clinical accuracy. CYP19A1 polymorphism may contribute to disease susceptibility, warranting validation in larger, multi-centric cohorts.
KEYWORDS:
Polycystic Ovary Syndrome (PCOS); Anti-Müllerian Hormone (AMH); Neutrophil-to-Lymphocyte Ratio (NLR); CYP19A1 Gene Polymorphism; Inflammatory Biomarkers.
