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

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.

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.

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.