Yano Keisuke, Harumatsu Toshio, Sugita Koshiro, Muto Mitsuru, Kawano Takafumi, Ieiri Satoshi, Kubota Masayuki
Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan.
Representative of Research Team for the Establishment of Treatment Guidelines for Persistent Cloaca, Cloacal Exstrophy and Mayer‑Rokitansky‑Küster‑Häuser Syndrome for the Proper Transitional Care of the Patients, The Research Project for Rare and Intractable Diseases of the Ministry of Health, Labour and Welfare (MHLW), Tokyo, Japan.
Pediatr Surg Int. 2022 Nov;38(11):1585-1589. doi: 10.1007/s00383-022-05201-3. Epub 2022 Aug 27.
Mayer-Rokitansky-Küster-Häuser syndrome (MRKH) usually presents with primary amenorrhea after puberty. The present study clarified the clinical features of MRKH diagnosed at under 16 years old.
We conducted a questionnaire survey to determine the status of MRKH in Japan. Twenty-one MRKH patients were enrolled, and the patient background and clinical features were analyzed.
The median age at the diagnosis was 2.6 [1.0-9.0] years. Three patients (14.3%) were diagnosed with type I MRKH, while 18 (85.7%) were diagnosed with type II. The associated anomalies included (some cases overlapped): anorectal malformation (ARM) (n = 13, 72.2%), renal malformation (n = 12, 66.7%), vertebral malformation (n = 11, 61.1%), esophageal atresia (n = 5, 27.8%), and cardiac malformation (n = 4, 22.2%). The comparison of patients with and without ARM revealed that patients with ARM were significantly younger than those without ARM at the time of the diagnosis (1.5 [1-2.6] years vs. 9.1 [8.2-11.7] years, p < 0.05). Associated ARM was the most frequent reason for the diagnosis of MRKH (n = 10, 47.6%).
MRKH patients with some associated anomalies, especially ARM, were frequently diagnosed in preoperative imaging examinations or radical operation for ARM. Pediatric surgeons should pay close attention to female patients with ARM to prevent errors in the diagnosis of MRKH.
迈耶-罗基坦斯基-库斯特-豪泽综合征（MRKH）通常在青春期后出现原发性闭经。本研究阐明了16岁以下诊断为MRKH的临床特征。
我们进行了一项问卷调查以确定日本MRKH的状况。纳入了21例MRKH患者，并分析了患者背景和临床特征。
诊断时的中位年龄为2.6[1.0 - 9.0]岁。3例患者（14.3%）被诊断为I型MRKH，而18例（85.7%）被诊断为II型。相关异常包括（部分病例有重叠）：肛门直肠畸形（ARM）（n = 13，72.2%）、肾脏畸形（n = 12，66.7%）、脊柱畸形（n = 11，61.1%）、食管闭锁（n = 5，27.8%）和心脏畸形（n = 4，22.2%）。有ARM和无ARM患者的比较显示，诊断时伴有ARM的患者比无ARM的患者明显年轻（1.5[1 - 2.6]岁 vs. 9.1[8.2 - 11.7]岁，p < 0.05）。相关的ARM是诊断MRKH最常见的原因（n = 10，47.6%）。
伴有一些相关异常尤其是ARM的MRKH患者，常在ARM的术前影像学检查或根治性手术中被频繁诊断。小儿外科医生应密切关注患有ARM的女性患者，以防止MRKH诊断错误。
