Porsius Eva, Spath Marian, Kluivers Kirsten, Klein Willemijn, Claahsen-van der Grinten Hedi
Department of Pediatric Endocrine Disease, Amalia Children's Hospital, Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
Department of Obstetrics and Gynaecology, Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
J Clin Med. 2022 Jul 25;11(15):4305. doi: 10.3390/jcm11154305.
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.
对原发性闭经女性进行影像学检查时，子宫看似缺失似乎会导致误诊风险很高，这会给患者带来极大的精神痛苦。
三名原发性闭经的年轻女性因影像学检查显示子宫明显缺失而被诊断为 Mayer-Rokitansky-Kuster-Hauser 综合征转诊。在两名患者中，子宫缺失得到证实，但诊断各异。另一名患者因雌激素水平低，子宫正常但未受刺激。
所呈现的病例说明了原发性闭经伴影像学检查子宫明显缺失的广泛鉴别诊断及特定陷阱。只有通过将影像学检查结果与临床病史、生化检查结果及体格检查进行全面关联，才能做出确切诊断。
