Na Chen1, Hongxin Pan2, Guangnan Luo2, Ping Wang3, Zhenwei Xie4, Keqin Hua5, Xiping Luo6, Xianghua Huang7, Qing Liu8, Liying Sun9, Weiping Hu10, Guangshi Tao11, Sen Zhao12, Nan Wu12, Lan Zhu13. 1. Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China. 2. Department of Gynecology and Obstetrics, Luohu Hospital, Shenzhen, People's Republic of China. 3. Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, People's Republic of China. 4. The Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, People's Republic of China. 5. Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, People's Republic of China. 6. Guangdong Women and Children's Hospital, Guangzhou, People's Republic of China. 7. Department of Obstetrics and Gynecology, the Second Hospital of Hebei Medical University, Shijiazhuang, People's Republic of China. 8. Gansu Provincial Maternal and Child Care Hospital, Lanzhou, Gansu, People's Republic of China. 9. Department of Children's Gynecology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou, People's Republic of China. 10. Anhui Provincial Hospital Affiliated to Anhui Medical University, Anhui Hefei, People's Republic of China. 11. Department of Gynecology and Obstetrics, Second Xiangya Hospital, Central South University, Hunan Changsha, People's Republic of China. 12. Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China. 13. Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China. Electronic address: zhu_julie@vip.sina.com.
Abstract
OBJECTIVE: To reveal the proportion of concomitant extragenital malformations in a large cohort of Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. STUDY DESIGN: Retrospective study. SETTING: Tertiary teaching hospitals in China. PATIENT(S): A total of 1,055 Chinese Han women with MRKH syndrome diagnosed and treated at 11 Chinese tertiary teaching hospitals from January 2015 to January 2020. INTERVENTION(S): Karyotype analysis, hormone profiling, pelvic ultrasonography, spinal roentgenograms, urologic ultrasonography, and Chinese female reproductive tract malformation registry platform (https://ecrf.linklab.com/). MAIN OUTCOME MEASURE(S): Patients' demographic and clinical characteristics, concurrent malformations, and family histories. RESULT(S): Of the 1,055 Chinese Han patients with MRKH, 69.6% had type I MRKH syndrome and the remaining 30.4% had type II MRKH syndrome. Among the type II patients, 12.6% had müllerian duct aplasia, unilateral renal aplasia/ectopic kidney, and cervicothoracic somite dysplasia association. Skeletal malformations were the most common associated extragenital malformations in the study (22.0%, 232/1,055), of which idiopathic scoliosis and congenital vertebral malformations were the 2 main skeletal malformations (80.6% and 14.2%, respectively). Renal malformations were the second-highest associated extragenital malformations (9.7%, 102/1,055), with unilateral renal agenesis and ectopic kidney being the most common renal malformations (48.0% and 22.5%, respectively). CONCLUSION(S): Type II disease was less common among Chinese patients with MRKH syndrome compared with European patients. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort.
OBJECTIVE: To reveal the proportion of concomitant extragenital malformations in a large cohort of Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. STUDY DESIGN: Retrospective study. SETTING: Tertiary teaching hospitals in China. PATIENT(S): A total of 1,055 Chinese Han women with MRKH syndrome diagnosed and treated at 11 Chinese tertiary teaching hospitals from January 2015 to January 2020. INTERVENTION(S): Karyotype analysis, hormone profiling, pelvic ultrasonography, spinal roentgenograms, urologic ultrasonography, and Chinese female reproductive tract malformation registry platform (https://ecrf.linklab.com/). MAIN OUTCOME MEASURE(S): Patients' demographic and clinical characteristics, concurrent malformations, and family histories. RESULT(S): Of the 1,055 Chinese Han patients with MRKH, 69.6% had type I MRKH syndrome and the remaining 30.4% had type II MRKH syndrome. Among the type II patients, 12.6% had müllerian duct aplasia, unilateral renal aplasia/ectopic kidney, and cervicothoracic somite dysplasia association. Skeletal malformations were the most common associated extragenital malformations in the study (22.0%, 232/1,055), of which idiopathic scoliosis and congenital vertebral malformations were the 2 main skeletal malformations (80.6% and 14.2%, respectively). Renal malformations were the second-highest associated extragenital malformations (9.7%, 102/1,055), with unilateral renal agenesis and ectopic kidney being the most common renal malformations (48.0% and 22.5%, respectively). CONCLUSION(S): Type II disease was less common among Chinese patients with MRKH syndrome compared with European patients. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort.