Machine Learning and Deep Learning for Diagnosis of Polycystic Ovary Syndrome: Systematic Review and Meta-Analysis (Preprint)

BACKGROUND Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder affecting reproductive-aged women worldwide, yet its diagnosis remains challenging due to heterogeneous clinical presentation and subjective assessment criteria. While machine learning (ML) and deep learning (DL) models have shown promising results in automating and improving PCOS diagnosis, a comprehensive quantitative synthesis of their diagnostic performance is still lacking. OBJECTIVE To evaluate the overall diagnostic accuracy of ML and DL models for PCOS and identify factors influencing their performance. METHODS This study was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A systematic search was performed in PubMed, Web of Science, Embase, and the Cochrane Library from inception to August 7, 2025. Studies evaluating the diagnostic value of DL or ML algorithms for PCOS were included, while those with duplicate or unavailable data were excluded. The Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool was used to evaluate the risk of bias in each study. Data synthesis and statistical analysis were performed utilizing the MIDAS and METAPROP packages in Stata. RESULTS Forty-five studies comprising 49 datasets were included. The pooled sensitivity and specificity of ML or DL models for diagnosing PCOS were 0.93 (95% CI: 0.90-0.95; I² = 96.77%) and 0.95 (95% CI: 0.93-0.97; I² = 96.28%), respectively. The area under the SROC curve was 0.98 (95% CI: 0.97-0.99). Subgroup analysis revealed that models utilizing DL (sensitivity: 0.98, specificity: 0.97), those trained on large databases, and those using ultrasound image features (sensitivity and specificity both: 0.99) demonstrated superior performance. CONCLUSIONS ML or DL models show promise for the diagnosis of PCOS, achieving high summary estimates of sensitivity and specificity. However, the substantial heterogeneity among studies and the scarcity of external validation significantly constrain the certainty of these findings and their generalizability to diverse clinical settings. Future research must prioritize large-scale, multi-center studies with robust external validation to confirm the real-world applicability and facilitate the clinical translation of these models. CLINICALTRIAL PROSPERO CRD420251137107; https://www.crd.york.ac.uk/PROSPERO/view/CRD420251137107