Diagnostic Accuracy of Anti-Müllerian Hormone for Polycystic Ovary Syndrome: An Updated Systematic Review and Meta-Analysis

초록

Background: The 2023 international evidence-based guideline for polycystic ovary syndrome (PCOS) conditionally recommended serum anti-Müllerian hormone (AMH) as an alternative to ultrasound for diagnosing polycystic ovarian morphology (PCOM) in adults, marking a significant shift in diagnostic practice. However, the diagnostic accuracy of AMH remains debated, particularly regarding its utility as a standalone test, its application across diverse populations, and its use in adolescents. Methods: A systematic review and meta-analysis was conducted following PRISMA guidelines. Major electronic databases, including PubMed, Embase, and the Cochrane Library, were searched for diagnostic accuracy studies published until November 2024, and studies evaluating serum AMH against the Rotterdam criteria for PCOS or ultrasound-defined PCOM were included. A bivariate random-effects model was used to pool sensitivity and specificity with 95% confidence intervals (CIs) for three key questions: AMH for 1) PCOS diagnosis in adults, 2) PCOM diagnosis in adults, and 3) PCOS diagnosis in adolescents. The Quality Assessment of Diagnostic Accuracy Studies-2 tool was used to assess the risk of bias. Results: For adult PCOS diagnosis, 83 studies (n = 33,376) were included, yielding a pooled sensitivity of 0.81 (95% CI, 0.78–0.83) and a specificity of 0.89 (95% CI, 0.86–0.91). For adult PCOM diagnosis, six studies (n = 11,436) provided a pooled sensitivity of 0.79 (95% CI, 0.70–0.86) and a specificity of 0.88 (95% CI, 0.77–0.94). In contrast, the analysis for adolescent PCOS (11 studies, n = 1,090) revealed a significantly lower accuracy, with a pooled sensitivity of 0.66 (95% CI, 0.58–0.73) and a specificity of 0.78 (95% CI, 0.71–0.83). Substantial heterogeneity was observed across all analyses. Conclusion: The current, updated meta-analysis confirms that serum AMH is a highly specific and moderately sensitive biomarker for diagnosing PCOM and PCOS in adults, supporting its role as an adjunctive diagnostic tool. However, its utility as a standalone test is limited by significant heterogeneity; in addition, its diagnostic performance is further limited in adolescents, providing evidence against its use in such population. Future efforts must focus on the international standardization of AMH assays and the development of population-specific reference values to enhance its clinical utility. © 2026 The Korean Academy of Medical Sciences. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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