Keisuke Yano1, Toshio Harumatsu1, Koshiro Sugita1, Mitsuru Muto1, Takafumi Kawano1, Satoshi Ieiri2,3, Masayuki Kubota4. 1. 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. 2. 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. sieiri@m.kufm.kagoshima-u.ac.jp. 3. 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. sieiri@m.kufm.kagoshima-u.ac.jp. 4. 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.
Abstract
PURPOSE: 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. METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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.
PURPOSE: 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. METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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.