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

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 .