Purpose of review: Laparoscopy is the gold standard for the diagnosis of endometriosis but the need for visual evidence of the disease is a major stumbling-block for both effective clinical management of affected patients as well as for research into this common and debilitating reproductive disease. Laparoscopy is invasive and often causes a delay in diagnosis and treatment, especially in symptomatic teenagers and young women. Moreover, the visual inspection of the pelvis has major limitations, particularly for the diagnosis of retroperitoneal lesions. It is therefore not surprising that considerable efforts are being made to improve imaging techniques and to evaluate the diagnostic value of potential molecular markers of disease.
Recent findings: High-resolution transvaginal ultrasonography and, in selected cases, magnetic resonance imaging improve the diagnosis of retroperitoneal pelvic endometriosis as well as the identification of lesions that involve pelvic organs. A variety of serum and endometrial markers are being evaluated for their diagnostic potential, particularly in endometriosis associated infertility. The first gene profiling studies are showing positive results and proteomic technology is being applied to identify novel diagnostic protein expression patterns.
Summary: Current imaging techniques, such as transvaginal ultrasonography, are useful to screen the pelvis for the presence of retroperitoneal endometriosis but fail to diagnose peritoneal lesions, small ovarian endometriomas and adhesions. Postgenomic technologies and identification of novel serum and endometrial markers are likely to revolutionize future diagnosis of endometriosis.