Function of anti-müllerian hormone (AMH), gonadotropins and FSHR rs6166 genetic variant in the pathogenesis and diagnostic assessment of polycystic ovary syndrome

BACKGROUND: This study investigated the association between anti-Müllerian hormone (AMH), gonadotropin levels, and the follicle stimulating hormone receptor (FSHR) rs6166 polymorphism in Iraqi women with polycystic ovary syndrome (PCOS). MATERIALS AND METHODS: A case-control study was conducted from October 2024 to May 2025, enrolling PCOS patients and age-matched eumenorrheic controls. Serum luteinizing hormone (LH), FSH, and AMH were measured via immunoassay, and FSHR rs6166 genotyping was performed using polymerase chain reaction–restriction fragment length polymorphism. RESULTS: Serum AMH was significantly higher in PCOS patients (9.24 ± 0.23 ng/mL) than in controls (4.03 ± 0.09 ng/mL; P < 0.0001). The AA genotype and A allele of FSHR rs6166 were significantly associated with increased PCOS risk (odds ratio [OR] = 3.55 and 2.03, respectively). receiver operating characteristic curve analysis demonstrated that AMH had superior diagnostic performance (area under the curve [AUC] = 0.985) with an optimal cut-off of 6.17 ng/mL (94.3% sensitivity, 93.2% specificity), outperforming LH (AUC = 0.906) and FSH (AUC = 0.607). A strong positive correlation was found between AMH and LH levels ( r = 0.627, P < 0.0001). CONCLUSION: Elevated AMH levels and the FSHR rs6166 A allele are significantly associated with PCOS risk in this population. AMH demonstrated exceptional diagnostic accuracy, suggesting its utility as a potent biomarker for PCOS detection and definition.