Clinical presentation and diagnosis of endometriosis

Endometriosis is one of the most common conditions encountered in gynecology and the field of infertility. The clinical presentation depends on the location and the extent of disease, but the severity of symptoms does not correlate directly with the extent of disease. Symptoms of genital endometriosis may be categorized as menstrual dysfunction, ovulatory dysfunction, and reproductive dysfunction. With menstrual dysfunction, the frequent clinical symptoms are cyclic pelvic pain, dysmenorrhea, and dyspareunia. Endometriosis is commonly found to be the cause in younger patients with pain and dysmenorrhea, particularly when the clinician is aware of the appearance of atypical lesions. Types of ovulatory dysfunction reported to be associated with endometriosis include anovulation, premenstrual spotting, luteal phase defects, and LUF syndrome. The data are not sufficient to determine the prevalence of endometriosis, luteal phase defects, and hyperprolactinemia. With LUF syndrome, there are data to support an association, but more data on the frequency of LUF in consecutive normal cycles compared to consecutive cycles in women with endometriosis would be beneficial. A higher rate of infertility is reported in couples with endometriosis. Two approaches are used to evaluate spontaneous abortions and endometriosis. In retrospective studies, the abortion rates are higher in couples with endometriosis; however, when the pregnancy outcomes in untreated couples are studied, there is less evidence to support the association of a higher spontaneous abortion rate. Formerly, the diagnosis of endometriosis depended on the appearance of typical lesions. With the recognition of early or atypical lesions the histologic confirmation of glands and stroma is assuming a more prominent role. Noninvasive techniques such as assays of endometrial antibodies or CA-125 have certain limitations in terms of producing false-positive results and lacking predictability in early stages of disease. Ultrasonography and MRI give additional and confirmatory information. Most noninvasive techniques are ancillary in diagnosis and management. It still needs to be determined whether their routine use will give enough added information to justify their cost. Currently, the diagnosis of endometriosis is best made by histologic evidence of glands and stroma.