Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review

<b>Background</b>: Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy in women of reproductive age, characterized by a broad spectrum of clinical, metabolic, and ultrasound findings. Over time, ultrasound has evolved into a cornerstone for diagnosing polycystic ovarian...

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Main Authors: Stefano Di Michele, Anna Maria Fulghesu, Elena Pittui, Martina Cordella, Gilda Sicilia, Giuseppina Mandurino, Maurizio Nicola D’Alterio, Salvatore Giovanni Vitale, Stefano Angioni
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:Biomedicines
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Online Access:https://www.mdpi.com/2227-9059/13/2/453
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author Stefano Di Michele
Anna Maria Fulghesu
Elena Pittui
Martina Cordella
Gilda Sicilia
Giuseppina Mandurino
Maurizio Nicola D’Alterio
Salvatore Giovanni Vitale
Stefano Angioni
author_facet Stefano Di Michele
Anna Maria Fulghesu
Elena Pittui
Martina Cordella
Gilda Sicilia
Giuseppina Mandurino
Maurizio Nicola D’Alterio
Salvatore Giovanni Vitale
Stefano Angioni
author_sort Stefano Di Michele
collection DOAJ
description <b>Background</b>: Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy in women of reproductive age, characterized by a broad spectrum of clinical, metabolic, and ultrasound findings. Over time, ultrasound has evolved into a cornerstone for diagnosing polycystic ovarian morphology (PCOM), thanks to advances in probe technology, 3D imaging, and novel stromal markers. The recent incorporation of artificial intelligence (AI) further enhances diagnostic precision by reducing operator-related variability. <b>Methods</b>: We conducted a narrative review of English-language articles in PubMed and Embase using the keywords “PCOS”, “polycystic ovary syndrome”, “ultrasound”, “3D ultrasound”, and “ovarian stroma”. Studies on diagnostic criteria, imaging modalities, stromal assessment, and machine-learning algorithms were prioritized. Additional references were identified via citation screening. <b>Results</b>: Conventional 2D ultrasound remains essential in clinical practice, with follicle number per ovary (FNPO) and ovarian volume (OV) functioning as primary diagnostic criteria. However, sensitivity and specificity values vary significantly depending on probe frequency, cut-off thresholds (≥12, ≥20, or ≥25 follicles), and patient characteristics (e.g., adolescence, obesity). Three-dimensional (3D) ultrasound and Doppler techniques refine PCOS diagnosis by enabling automated follicle measurements, stromal/ovarian area ratio assessments, and evaluation of vascular indices correlating strongly with hyperandrogenism. Meanwhile, AI-driven ultrasound analysis has emerged as a promising tool for minimizing observer bias and validating advanced metrics (e.g., SA/OA ratio) that may overcome traditional limitations of stroma-based criteria. <b>Conclusions</b>: The continual evolution of ultrasound, encompassing higher probe frequencies, 3D enhancements, and now AI-assisted algorithms, has expanded our ability to characterize PCOM accurately. Nevertheless, challenges such as operator dependency and inter-observer variability persist despite standardized protocols; the integration of AI holds promise in further enhancing diagnostic accuracy. Future directions should focus on robust AI training datasets, multicenter validation, and age-/BMI-specific cut-offs to optimize the balance between sensitivity and specificity, ultimately facilitating earlier and more precise PCOS diagnoses.
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spelling doaj-art-e151371fc1ab4e259f910915a9490b9a2025-08-20T03:11:20ZengMDPI AGBiomedicines2227-90592025-02-0113245310.3390/biomedicines13020453Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive ReviewStefano Di Michele0Anna Maria Fulghesu1Elena Pittui2Martina Cordella3Gilda Sicilia4Giuseppina Mandurino5Maurizio Nicola D’Alterio6Salvatore Giovanni Vitale7Stefano Angioni8Division of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, ItalyDivision of Gynecology and Obstetrics, Department of Surgical Sciences, University of Cagliari, SS554, 4, Monserrato, 09042 Cagliari, Italy<b>Background</b>: Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy in women of reproductive age, characterized by a broad spectrum of clinical, metabolic, and ultrasound findings. Over time, ultrasound has evolved into a cornerstone for diagnosing polycystic ovarian morphology (PCOM), thanks to advances in probe technology, 3D imaging, and novel stromal markers. The recent incorporation of artificial intelligence (AI) further enhances diagnostic precision by reducing operator-related variability. <b>Methods</b>: We conducted a narrative review of English-language articles in PubMed and Embase using the keywords “PCOS”, “polycystic ovary syndrome”, “ultrasound”, “3D ultrasound”, and “ovarian stroma”. Studies on diagnostic criteria, imaging modalities, stromal assessment, and machine-learning algorithms were prioritized. Additional references were identified via citation screening. <b>Results</b>: Conventional 2D ultrasound remains essential in clinical practice, with follicle number per ovary (FNPO) and ovarian volume (OV) functioning as primary diagnostic criteria. However, sensitivity and specificity values vary significantly depending on probe frequency, cut-off thresholds (≥12, ≥20, or ≥25 follicles), and patient characteristics (e.g., adolescence, obesity). Three-dimensional (3D) ultrasound and Doppler techniques refine PCOS diagnosis by enabling automated follicle measurements, stromal/ovarian area ratio assessments, and evaluation of vascular indices correlating strongly with hyperandrogenism. Meanwhile, AI-driven ultrasound analysis has emerged as a promising tool for minimizing observer bias and validating advanced metrics (e.g., SA/OA ratio) that may overcome traditional limitations of stroma-based criteria. <b>Conclusions</b>: The continual evolution of ultrasound, encompassing higher probe frequencies, 3D enhancements, and now AI-assisted algorithms, has expanded our ability to characterize PCOM accurately. Nevertheless, challenges such as operator dependency and inter-observer variability persist despite standardized protocols; the integration of AI holds promise in further enhancing diagnostic accuracy. Future directions should focus on robust AI training datasets, multicenter validation, and age-/BMI-specific cut-offs to optimize the balance between sensitivity and specificity, ultimately facilitating earlier and more precise PCOS diagnoses.https://www.mdpi.com/2227-9059/13/2/453PCOSPCOM3D ultrasoundovarian stromamachine learningsensitivity
spellingShingle Stefano Di Michele
Anna Maria Fulghesu
Elena Pittui
Martina Cordella
Gilda Sicilia
Giuseppina Mandurino
Maurizio Nicola D’Alterio
Salvatore Giovanni Vitale
Stefano Angioni
Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review
Biomedicines
PCOS
PCOM
3D ultrasound
ovarian stroma
machine learning
sensitivity
title Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review
title_full Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review
title_fullStr Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review
title_full_unstemmed Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review
title_short Ultrasound Assessment in Polycystic Ovary Syndrome Diagnosis: From Origins to Future Perspectives—A Comprehensive Review
title_sort ultrasound assessment in polycystic ovary syndrome diagnosis from origins to future perspectives a comprehensive review
topic PCOS
PCOM
3D ultrasound
ovarian stroma
machine learning
sensitivity
url https://www.mdpi.com/2227-9059/13/2/453
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