Primary Amenorrhea with Apparently Absent Uterus: A Report of Three Cases.

Background: The apparent absence of a uterus upon imaging women with primary amenorrhea appears to lead to a high risk of misdiagnosis, which will lead to significant mental distress in patients.

Case: Three young females with primary amenorrhea were referred with a diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome based on radiological findings of an apparently absent uterus. In two patients, the absence of the uterus could be confirmed, but with various diagnoses. The other patient had a normal but unstimulated uterus due to her hypoestrogenic state.

Summary And Conclusion: The presented cases illustrate the broad differential diagnoses and the specific pitfalls of primary amenorrhea with an apparently absent uterus upon imaging. A well-established diagnosis was only possible through a thorough correlation of imaging findings with clinical history, biochemical findings and physical examination.