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.

OBJECTIVE: To analyze the spectrum of Type I and Type II malformations in Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

METHODS: It 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. Patients with MRKH syndrome, both in- and out-patients were reviewed and analyzed.

RESULTS: A total of 274 cases were included in the analysis: 197 (71.9%) with Type I MRKH syndrome and the remaining 77 (28.1%) with Type II MRKH syndrome. The rate of concurrent deformities was 13.1% (32/244) for renal malformation, and 39.2% (49/125) for skeletal malformation. Nine patients had both renal and skeletal malformations (MURCS). Cardiac, neurologic and other malformations (e.g., anal atresia) were sporadic. The percentage of Type II MRKH syndrome in our cohort was considerably higher than that reported (7.2%) in a previous large-scale study in southern China, but lower than that (46.2%) reported for Caucasians.

CONCLUSIONS: The spectrum of Type I and Type II MRKH syndrome varies across different races and geological locations.