Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study

The proportion of type II disease was lower among Chinese than European patients with Mayer-RokitanskyKuster-Hauser syndrome. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort.

VOLUME 116, ISSUE 2, P558-565


Na Chen, M.D., Hongxin Pan, M.D., Guangnan Luo, B.S., Ping Wang, M.D., Zhenwei Xie, M.D., Keqin Hua, M.D., Xiping Luo, M.S., Xianghua Huang, Ph.D., Qing Liu, M.S., Liying Sun, B.S., Weiping Hu, M.S., Guangshi Tao, M.D., Sen Zhao, B.S., Nan Wu, M.D., Lan Zhu, M.D. 



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.


Tertiary teaching hospitals in China.


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.


Karyotype analysis, hormone profiling, pelvic ultrasonography, spinal roentgenograms, urologic ultrasonography, and Chinese female reproductive tract malformation registry platform (

Main Outcome Measure(s)

Patients’ demographic and clinical characteristics, concurrent malformations, and family histories.


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).


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.


Go to the profile of Lan Zhu
about 1 year ago

Reply to Professor Kauffman’s editorial




Comment on: Chen N, et al.  Clinical feature of 1055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study.  Fertil Steril, accepted for publication.



Lan Zhu, M.D.,



from the Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing 100730, China;


Conflicts of interest:  none to declare


Dear Professor Kauffman,

Thank you very much for your insightful comment on our study. A detailed literature review including the physical and psychological effects of the disease on MRKH patients, the prevalence, the associated malformations, the complex and uncertain etiology, and the ethnic phenotypic diversities among different MRKH cohorts was conducted in your comment.

In clinical studies of MRKH, psychological counseling and peer support should be enhanced. A MRKH patient group was established based on the We-Chat platform in Peking Union Medical College Hospital since 2015. This We-Chat group currently has 493 members, of whom all but three obstetricians and one psychologist are MRKH patients diagnosed at our hospital. The oldest patient in the group is over 40 years old and the youngest patient is only 16 years old, and everyone in the group uses WeChat nicknames, thus protecting privacy. Troubles in gender relationships, life struggles, and fertility difficulties are often discussed in the group. Older patients are willing to offer their experience and courage when younger ones encounter the same problems they have encountered before. However, considering the high risk of MRKH patients show depressive and anxiety symptoms[1, 2], proper psychological assessment and psychotherapy in the psychology clinics should be further promoted.

We totally agree that given the multiple consequences of MRKH syndrome, in-depth etiological studies should be conducted in addition to clinical studies. In fact, the peripheral blood samples of MRKH sporadic patients and parents of some patients were also collected in addition to the collection of the clinical characteristics of these patients in the past 10 years in China. Till November 2017,exome sequencing was performed on 442 Chinese MRKH patients and 941 female control subjects. By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting variants in 7 genes: PAX8 (n =4), BMP4 (n=2), BMP7 (n=2), TBX6 (n=1), HOXA10 (n=1), EMX2 (n=1), and WNT9B (n=1), while LGD variants in these genes were not detected in control samples (p=1.27E-06)[3]. Further experiments to identify the mechanism of the top-three candidate-gene mutations (PAX8, BMP4 and BMP7) found above as cause of MRKH were performed now. To date, whole genome sequencing was performed on another 303 sporadic Chinese MRKH patients (including 105 trios). Analysis of the sequencing data is still in progress.

Thank you again for your comments and we look forward to working with more physicians interested in MRKH syndrome to explore the etiology of the disease and improve the quality of life in MRKH patients.


  1. Song S, Chen N, Duan YP, Kang J, Deng S, Pan HX et al. Anxiety symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: a cross-sectional study. Chin Med J (Engl) 2020;133:388-94.
  2. Chen N, Song S, Duan Y, Kang J, Deng S, Pan H et al. Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases. Orphanet journal of rare diseases 2020;15:121.
  3. Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. The American Journal of Human Genetics 2021.