Clinical features of Mayer–Rokitansky–Küster–Haüser syndrome diagnosed in childhood: Results from a nationwide survey in 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 in childhood.Methods: We conducted a nationwide 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%), 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 [0-12.3] years vs. 9.1 [0.5-16.0] 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.