Spectrum of Type I and Type II Syndromes and Associated Malformations in Chinese Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: A Retrospective Analysis of 274 Cases.

ABSTRACT

STUDY OBJECTIVE: To analyze the spectrum of type I and type II malformations in Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: This was a cross-sectional descriptive study that used data from a National Clinical Research Center for Obstetrical and Gynecological Diseases of China, reviewed from January 2009 to July 2017. Data of in- and outpatients with MRKH syndrome were reviewed and analyzed. RESULTS: A total of 274 cases were included in the analysis: 197/274 (71.9%) with type I MRKH syndrome and the remaining 77/274 (28.1%) with type II MRKH syndrome. The rate of concurrent deformities was 32/244 (13.1%) for renal malformation, and 49/125 (39.2%) for skeletal malformation. Nine patients had renal and skeletal malformations (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia). Cardiac, neurologic, and other malformations (eg, anal atresia) were sporadic. The percentage of type II MRKH syndrome in our cohort was considerably higher than that reported 43/594 (7.2%) in a previous large-scale study in southern China, but lower than that 489/1259 (46.2%) reported for Caucasian individuals. CONCLUSION: The spectrum of type I and type II MRKH syndrome varies across different races and geological locations.