The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical College, New York, New York.
The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical College, New York, New York.
J Pediatr Adolesc Gynecol. 2021 Oct;34(5):749-757. doi: 10.1016/j.jpag.2021.04.005. Epub 2021 Apr 25.
Obstructed Müllerian anomalies in adolescents can be grouped into complete outflow obstruction or unilateral outflow obstruction. The challenge with unilateral obstructions is that diagnosis can be delayed for weeks to years, as menstruation occurs normally through the patent side and thus obstruction is often not initially considered in the differential diagnosis.
In this case series, we present 3 unusual and challenging cases of unilateral Müllerian obstructions in adolescent female patients, along with strategies for diagnosis and management. Each case involves a unique variation of a recognized Müllerian anomaly that was initially misdiagnosed, leading to a significant delay in definitive diagnosis and treatment.
These cases highlight that even among the well-described Müllerian anomalies, there can be unusual variations. Patients who do not respond to initial management or who develop new symptoms should be further evaluated to confirm the correct diagnosis Tools that may be helpful in making the correct diagnosis include imaging studies that use contrast dye to better delineate cavities and their connections, magnetic resonance imaging with a radiologist experienced in Müllerian anomalies, and an examination under anesthesia. A definitive diagnosis is critical to the successful management of these conditions, and individualized management plans are required for each patient depending on their specific anomaly and their preferences for treatment.
青春期的 Müllerian 畸形可分为完全性流出道梗阻或单侧流出道梗阻。单侧梗阻的挑战在于，由于月经可通过通畅侧正常排出，因此诊断可能会延迟数周至数年，梗阻通常不会被最初考虑在鉴别诊断中。
在本病例系列中，我们介绍了 3 例青春期女性单侧 Müllerian 梗阻的罕见且具有挑战性的病例，以及诊断和管理策略。每个病例均涉及一种已被识别的 Müllerian 异常的独特变异，这些变异最初被误诊，导致明确诊断和治疗的显著延迟。
这些病例表明，即使在描述明确的 Müllerian 异常中，也可能存在不常见的变异。对于那些对初始治疗无反应或出现新症状的患者，应进一步评估以确认正确的诊断。有助于做出正确诊断的工具包括使用造影剂更好地描绘腔及其连接的影像学研究、具有 Müllerian 异常经验的放射科医生进行的磁共振成像，以及全身麻醉下的检查。明确的诊断对于这些疾病的成功治疗至关重要，每个患者都需要根据其特定的异常和对治疗的偏好制定个体化的管理计划。
