What Constitutes a Diagnosis of Endometriosis? Rethinking the Hierarchy of Clinical, Imaging, Surgical, and Histopathological Evidence

Warda Abuzar, Zubair H, Ayesha Sajid
In: INNOVAPATH · 2026 · vol. 1(3) , pp. 23 · doi:10.63501/73tmpg67 · W7214206797
article OA: hybrid CC0
🔓 Open OA copy Full text JSON View on OpenAlex View at publisher
⚙ AI-generated summary by qwen3.7-flash, 2026-10-04 ⓘ

This narrative review argues that endometriosis diagnosis requires an integrated, phenotype-specific assessment of clinical, imaging, surgical, and histopathological evidence rather than relying on a single gold standard to determine diagnostic probability.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by qwen3.7-flash, 2026-09-28 · read from full text ⓘ

This narrative review challenges the historical paradigm that laparoscopy with histopathological confirmation serves as the singular gold standard for diagnosing endometriosis. The authors argue that because symptoms, imaging findings, and surgical appearances often disagree, diagnosis should instead be conceptualized as an integrated, phenotype-specific assessment of diagnostic probability. They propose a framework distinguishing between clinical suspicion, presumptive clinicoradiological diagnosis, surgical diagnosis, and histologically supported diagnosis to better guide patient-centered decision-making. This paper is centrally about endometriosis — specifically rethinking the hierarchy of evidence used to establish its diagnosis.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

Abstract

Abstract Endometriosis is a chronic gynecological disease associated with pelvic pain, infertility, and substantial impairment in quality of life. Despite its prevalence and clinical burden, diagnosis remains challenging because symptoms, lesion distribution, disease phenotype, imaging findings, laparoscopic appearance, and histopathology do not always correspond. Historically, laparoscopy, supported by histopathological confirmation, was regarded as the diagnostic gold standard. However, this paradigm has progressively changed with advances in high-quality transvaginal ultrasonography (TVUS) and magnetic resonance imaging (MRI), alongside recognition that surgical visualization and histopathology are themselves imperfect diagnostic references. Contemporary guidelines increasingly support non-invasive imaging within the diagnostic pathway and no longer require diagnostic laparoscopy for every patient with suspected endometriosis. Nevertheless, imaging remains strongly phenotype-dependent and is less sensitive for superficial peritoneal disease. This creates an unresolved diagnostic problem: when clinical, imaging, surgical, and histopathological evidence disagree, which source should determine whether a patient “has” endometriosis? This narrative review examines the diagnostic contribution and limitations of clinical assessment, TVUS, MRI, laparoscopy, and histopathology. We argue that the traditional concept of a single diagnostic gold standard is increasingly difficult to sustain. Instead, endometriosis diagnosis should be conceptualized as an integrated, phenotype-specific assessment of diagnostic probability, in which the weight assigned to each modality depends on its strengths, limitations, and clinical context. We propose a framework distinguishing clinical suspicion, presumptive clinicoradiological diagnosis, surgical diagnosis, and histologically supported diagnosis, while emphasizing that negative findings from any individual modality should not automatically exclude disease. This approach may better reflect contemporary evidence and support patient-centered diagnostic decision-making .
Full text 7,437 characters · extracted from oa-doi-fallback · 2 sections · click to expand

Abstract

Endometriosis is a chronic gynecological disease associated with pelvic pain, infertility, and substantial impairment in quality of life. Despite its prevalence and clinical burden, diagnosis remains challenging because symptoms, lesion distribution, disease phenotype, imaging findings, laparoscopic appearance, and histopathology do not always correspond. Historically, laparoscopy, supported by histopathological confirmation, was regarded as the diagnostic gold standard. However, this paradigm has progressively changed with advances in high-quality transvaginal ultrasonography (TVUS) and magnetic resonance imaging (MRI), alongside recognition that surgical visualization and histopathology are themselves imperfect diagnostic references. Contemporary guidelines increasingly support non-invasive imaging within the diagnostic pathway and no longer require diagnostic laparoscopy for every patient with suspected endometriosis. Nevertheless, imaging remains strongly phenotype-dependent and is less sensitive for superficial peritoneal disease. This creates an unresolved diagnostic problem: when clinical, imaging, surgical, and histopathological evidence disagree, which source should determine whether a patient “has” endometriosis? This narrative review examines the diagnostic contribution and limitations of clinical assessment, TVUS, MRI, laparoscopy, and histopathology. We argue that the traditional concept of a single diagnostic gold standard is increasingly difficult to sustain. Instead, endometriosis diagnosis should be conceptualized as an integrated, phenotype-specific assessment of diagnostic probability, in which the weight assigned to each modality depends on its strengths, limitations, and clinical context. We propose a framework distinguishing clinical suspicion, presumptive clinicoradiological diagnosis, surgical diagnosis, and histologically supported diagnosis, while emphasizing that negative findings from any individual modality should not automatically exclude disease. This approach may better reflect contemporary evidence and support patient-centered diagnostic decision-making .

References

References Becker CM, Bokor A, Heikinheimo O, Horne A, Jansen F, Kiesel L, King K, Kvaskoff M, Nap A, Petersen K, Saridogan E. ESHRE guideline: endometriosis. Human reproduction open. 2022 Jan 1;2022(2):hoac009. As-Sanie S, Mackenzie SC, Morrison L, Schrepf A, Zondervan KT, Horne AW, Missmer SA. Endometriosis: a review. Jama. 2025 Jul 1;334(1):64-78. De Corte P, Klinghardt M, von Stockum S, Heinemann K. Time to diagnose endometriosis: current status, challenges and regional characteristics—a systematic literature review. BJOG: An International Journal of Obstetrics & Gynaecology. 2025 Jan;132(2):118-30. Singh SS, Allaire C, Al-Nourhji O, Bougie O, Bridge-Cook P, Duigenan S, Kroft J, Lemyre M, Leonardi M, Leyland N, Maheux-Lacroix S. Guideline No. 449: diagnosis and impact of endometriosis–a Canadian guideline. Journal of Obstetrics and Gynaecology Canada. 2024 May 1;46(5):102450. Gratton SM, Choudhry AJ, Vilos GA, Vilos A, Baier K, Holubeshen S, Medor MC, Mercier S, Nguyen V, Chen I. Diagnosis of endometriosis at laparoscopy: a validation study comparing surgeon visualization with histologic findings. Journal of Obstetrics and Gynaecology Canada. 2022 Feb 1;44(2):135-41. Kanti, F.S., Gorak Savard, R., Bergeron, F., Zomahoun, H.T.V., Netter, A. and Maheux-Lacroix, S., 2024. Transvaginal ultrasound and magnetic resonance imaging in the diagnosis of endometrioma: a systematic review and meta-analysis of diagnostic test accuracy studies. Journal of Obstetrics and Gynaecology, 44(1), p.2311664. Leonardi M, Uzuner C, Mestdagh W, Lu C, Guerriero S, Zajicek M, Dueckelmann A, Filippi F, Buonomo F, Pascual MA, Stepniewska A. Diagnostic accuracy of transvaginal ultrasound for detection of endometriosis using International Deep Endometriosis Analysis (IDEA) approach: prospective international pilot study. Ultrasound in Obstetrics & Gynecology. 2022 Sep;60(3):404-13. Condous G, Gerges B, Thomassin-Naggara I, Becker CM, Tomassetti C, Krentel H, van Herendael BJ, Malzoni M, Abrao MS, Saridogan E, Keckstein J. Non-invasive imaging techniques for diagnosis of pelvic deep endometriosis and endometriosis classification systems: an International Consensus Statement. Human reproduction open. 2024 Jan 1;2024(3):hoae029. Thomassin-Naggara I, Dolciami M, Chamie LP, Guerra A, Bharwani N, Freeman S, Rousset P, Manganaro L. ESUR consensus MRI for endometriosis: protocol, lexicon, and compartment-based analysis. European Radiology. 2025 Nov;35(11):7272-86. Brulport A, Bourdon M, Vaiman D, Drouet C, Pocate-Cheriet K, Bouzid K, Marcellin L, Santulli P, Abo C, Jeljeli M, Chouzenoux S. An integrated multi-tissue approach for endometriosis candidate biomarkers: a systematic review. Reproductive Biology and Endocrinology. 2024 Feb 10;22(1):21. Gaia-Oltean AI, Boitor D, Pop LA, Galea G, Telecan T, Micu R. Non-Invasive Methods for Early Diagnosis of Endometriosis—A Comprehensive Narrative Literature Review. InHealthcare 2025 Dec 13 (Vol. 13, No. 24, p. 3276). Mittal S, Tong A, Young S, Jha P. Artificial intelligence applications in endometriosis imaging. Abdominal Radiology. 2025 Oct;50(10):4901-13. Shrestha P, Shrestha B, Sherestha J, Chen J. Current status and future potential of machine learning in diagnostic imaging of endometriosis: a literature review. JNMA: Journal of the Nepal Medical Association. 2025 Mar 31;63(283):205. Avery JC, Deslandes A, Freger SM, Leonardi M, Lo G, Carneiro G, Condous G, Hull ML, Hull L, Avery J, O’Hara R. Noninvasive diagnostic imaging for endometriosis part 1: a systematic review of recent developments in ultrasound, combination imaging, and artificial intelligence. Fertility and sterility. 2024 Feb 1;121(2):164-88. Tian Z, Zhang YC, Sun XH, Wang Y, Zhao Y, Chang XH, Zhu HL. Accuracy of transvaginal ultrasound and magnetic resonance imaging for diagnosis of deep endometriosis in bladder and ureter: a meta-analysis. Journal of Obstetrics and Gynaecology. 2022 Aug 18;42(6):2272-81. Roditis A, Florin M, Rousset P, Touboul C, Bendifallah S, Bazot M, Thomassin-Naggara I. Accuracy of combined physical examination, transvaginal ultrasonography, and magnetic resonance imaging to diagnose deep endometriosis. Fertility and sterility. 2023 Apr 1;119(4):634-43. Zhou Y, Su Y, Liu H, Wu H, Xu J, Dong F. Accuracy of transvaginal ultrasound for diagnosis of deep infiltrating endometriosis in the uterosacral ligaments: systematic review and meta-analysis. Journal of Gynecology Obstetrics and Human Reproduction. 2021 Mar 1;50(3):101953. Cosgriff L, Mukker A, Ford C, Tavcar J. Advances in non‐invasive diagnostic tools for endometriosis: A narrative review of the past ten years. International Journal of Gynecology & Obstetrics. 2026 Feb;172(2):786-94. Downloads Published Issue Section License This article is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, sharing, adaptation, distribution, and reproduction in any medium or format, provided appropriate credit is given to the author(s) and the source. To view a copy of this license, visit: https://creativecommons.org/licenses/by/4.0

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-doi-fallback ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (17)

Source provenance

openalex
last seen: 2026-10-05T06:10:06.749997+00:00
License: CC0 · commercial use OK