What is the diagnostic approach for endometriosis?

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Last updated: June 16, 2025View editorial policy

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From the Guidelines

The diagnostic approach for endometriosis begins with a thorough clinical evaluation, including a detailed history of symptoms such as pelvic pain, dysmenorrhea, dyspareunia, and infertility, and should prioritize transvaginal ultrasound as the first-line imaging modality, as supported by the most recent evidence from 1.

Key Components of Diagnostic Approach

  • Physical examination should focus on identifying pelvic tenderness, nodularity along the uterosacral ligaments, fixed uterine retroversion, or adnexal masses.
  • Transvaginal ultrasound is particularly useful for detecting endometriomas and deep infiltrating endometriosis.
  • MRI may provide additional information in complex cases, as noted in 1, which highlights its value in assessing for endometriomas and other signs of endometriosis.
  • Laparoscopy with histological confirmation remains the gold standard for definitive diagnosis, allowing direct visualization of endometriotic lesions and their surgical removal.

Considerations for Empiric Treatment

  • In some cases, empiric treatment with hormonal therapy may be initiated based on clinical suspicion without surgical confirmation, especially in adolescents or when symptoms are highly suggestive.
  • Biomarkers such as CA-125 have limited utility due to poor sensitivity and specificity, as discussed in the context of diagnosis and management in 1 and 1.

Importance of Early Diagnosis

  • Early diagnosis is crucial as endometriosis is often progressive and can lead to significant scarring, adhesions, and organ dysfunction if left untreated, emphasizing the need for a prompt and accurate diagnostic approach, as underscored by the consensus in 1.

Classification and Staging

  • The classification of endometriosis is complex and multifaceted, with various systems including the r-ASRM, Enzian, and EFI, each with its own strengths and limitations, as detailed in 1, 1, and 1.
  • A comprehensive approach to classification, incorporating clinical evaluation, imaging, and surgical findings, is essential for guiding treatment and predicting outcomes, as recommended by the consensus statements in 1 and 1.

From the Research

Diagnostic Approach for Endometriosis

The diagnostic approach for endometriosis involves a combination of clinical evaluation, laboratory tests, imaging techniques, and surgical staging.

  • Initial diagnostic investigations include physical examination and pelvic ultrasound 2.
  • Transvaginal ultrasound and pelvic magnetic resonance imaging are recommended to evaluate the extent of the endometriosis and to determine whether any urinary tract or bowel procedures might also be required during surgical resection 2.
  • Laparoscopy with biopsy remains the definitive method for diagnosis, although several gynecologic organizations recommend empiric therapy without immediate surgical diagnosis 3.
  • Quality of life should be assessed by using the Endometriosis Health Profile-30, its short version EHP-5 or the generic quality of life questionnaire SF-36 2.

Clinical Evaluation

Clinical evaluation is crucial in the diagnosis of endometriosis.

  • The pelvic examination should include a speculum examination and vaginal palpation 2.
  • Mobility, fixation and/or tenderness of the uterus and site-specific tenderness in the pelvis should be evaluated 2.
  • Presentation of endometriosis can vary widely, from infertility in asymptomatic people to debilitating pelvic pain, dysmenorrhea, and period-related gastrointestinal or urinary symptoms 3.

Imaging Techniques

Imaging techniques play a significant role in the diagnosis of endometriosis.

  • Transvaginal ultrasonography is used to evaluate endometriosis of deep pelvic sites to rule out other causes of pelvic pain 3.
  • Magnetic resonance imaging is preferred if deep infiltrating endometriosis is suspected 3.
  • Transrectal ultrasound and magnetic resonance imaging were shown to be valuable in detection of deep infiltrating lesions, especially in the rectovaginal septum 4.

Laboratory Tests

Laboratory tests have limited value in the diagnosis of endometriosis.

  • Currently available laboratory markers are of limited value 4.
  • Serum CA-125 is usually elevated only in advanced stages and therefore not suitable for routine screening 4.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Evaluation and management of endometriosis.

Climacteric : the journal of the International Menopause Society, 2023

Research

Endometriosis: Evaluation and Treatment.

American family physician, 2022

Research

Diagnosis of endometriosis.

Seminars in reproductive medicine, 2003

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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