Endometriosis is an estrogen-dependent growth of extrauterine endometrial-like tissue that induces a chronic inflammatory response.

Main clinical features include chronic pelvic pain, dyspareunia and infertility.

Patients with endometriosis may also be completely asymptomatic.

Goals of treatment are decreasing pain, enhancing fertility, and preventing progression or recurrence. 


Endometriosis Diagnosis


  • Should include:
    • Age (reproductive year, most commonly at 25-29 years old)
    • In utero exposure to environmental toxins like diethylstilbestrol which increases the incidence of endometriosis
    • Family history of endometriosis (7x higher risk than with no family history)

Physical Examination

  • Ideally done during early menses because endometrial implants are likely to be largest and deep infiltrating, hence more easily detectable
  • Perform abdominal inspection and palpation, a rectovaginal examination, and assess the uterus’ mobility, position and size
  • Diagnosis is more definite if deeply infiltrative nodules are found on the uterosacral ligaments or in pouch of Douglas, and/or lesions are directly seen in the vagina or cervix
  • Note that there may be no abnormal findings on physical exam
  • For patients who are not sexually active, a rectal-abdominal exam may be better tolerated than a vaginal-abdominal exam
  • A cotton swab can be inserted into the vagina to document patency and exclude complete or partially obstructive anomalies such as a transverse vaginal septum, imperforate or microperforate hymen, or an obstructed hemivagina
Other Frequent Findings:
  • Pain with uterine movement or pelvic tenderness
  • Tender, enlarged adnexal masses
  • Fixation of adnexa or uterus in a retroverted position

Laboratory Tests

  • Urinalysis and urine culture to identify pain originating in the urinary tract (eg cystitis, stones)
  • Pregnancy test and tests for sexually transmitted infection (STI) like gonorrhea, chlamydia, when appropriate
Miscellaneous Test

Serum CA-125 
  • Women with endometriosis may have high serum CA-125 concentration
    • No value as diagnostic tool in endometriosis, though it may be used to assess the presence of an undiagnosed adnexal mass
    • Also elevated in ovarian epithelial neoplasia, myoma, adenomyosis, acute pelvic inflammatory disease (PID), ovarian cyst, pregnancy


Transvaginal Sonography (TVS)
  • Considered the 1st-line imaging tool to examine suspected endometriosis
  • Should be performed to determine whether a pelvic mass or structural anomaly is present
  • Useful in diagnosing or excluding rectal endometriosis
  • May identify an ovarian endometrioma and help identify other structural causes of pelvic pain, such as ovarian cysts, torsion, tumors, genital tract anomalies and appendicitis
    • Distinguishes endometrioma from other ovarian cysts with 83% sensitivity and 89% specificity
    • Ovarian endometrioma may be diagnosed in premenopausal women with findings of ground glass echogenicity and 1-4 compartments and absence of papillary structures with blood flow
Magnetic Resonance Imaging (MRI)
  • May be helpful in some cases to better define an abnormality suspected by sonography
    • Detects ovarian endometrial cysts with 90% sensitivity and 98% specificity
  • Provides exact location of deep retroperitoneal lesion
  • May be used as part of pre-op workup, but should not be used as 1st-line
Other Imaging Studies
  • Cystoscopy, colonoscopy and rectal ultrasonography may be required if deep endometriosis is suspected

Surgical Tests

  • Gold standard for diagnosis, unless lesions are visible in the vagina
    • May also be used for therapeutic purposes
    • Should not be done during or within 3 months of hormonal treatment to avoid under-diagnosis
  • Biopsy and histopathologic study of at least one lesion is ideal
    • 3 cardinal features (ie ectopic endometrial glands, ectopic endometrial stroma, and hemorrhage into adjacent tissue) should be present
    • In adolescents, features of endometriosis may be atypical (ie clear vesicles and red lesions)
  • A negative laparoscopy does not exclude the diagnosis of endometriosis
  • Depending on the severity of the disease found, it is best to remove the endometriotic lesion at the same time
  • Differential diagnoses (eg endosalpingiosis, mesothelial hyperplasia, hemosiderin deposition, hemangiomas, adrenal rests, inflammatory changes, splenosis and reactions to oil-based radiographic dyes) can be excluded by biopsy
Laparoscopic Classifications (based on location, extent and severity of lesions)
  • Revised American Society for Reproductive Medicine (rASRM) Score [formerly the Revised American Fertility Society (rAFS) Score] 
    • Noted aspects include bilaterality, depth of invasion, size, involvement of the ovary and cul-de sac, and density of adhesions
    • Scores are as follows: 1-5 minimal disease (stage I), 6-15 mild disease (stage II), 16-40 moderate disease (stage III), >40 severe disease (stage IV) 
    • Does not take into account the retroperitoneal structures and deep infiltrating endometriosis 
  • Enzian Staging System
    • Presence of deep infiltrating endometriosis is taken into account  
    • Supplements the rASRM score with a description of deep infiltrating endometriosis, retroperitoneal structures and other organ involvement
  • May be considered in suspected endometriosis lesions and endometriomas to help confirm the diagnosis and exclude possible malignancy
    • Recommended for the diagnosis of patients with mild to moderate endometriosis 
    • In patients with endometriosis, prevalence of ovarian cancer is <1%
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