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

Na Chen¹, Hongxin Pan², Guangnan Luo²

¹Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.

Fertility and Sterility

|March 22, 2021

Insights

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in Chinese women shows skeletal malformations are more common than renal ones. Type II MRKH is less frequent in this population compared to European cohorts.

Area of Science:

Reproductive Medicine
Genetics
Congenital Malformations

Background:

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder affecting the female reproductive tract.
Understanding the spectrum of associated extragenital malformations is crucial for comprehensive patient management.

Purpose of the Study:

To determine the prevalence of concomitant extragenital malformations in a large cohort of Chinese patients diagnosed with MRKH syndrome.
To compare the occurrence of different types of malformations within this population.

Main Methods:

Retrospective study involving 1,055 Chinese Han women with MRKH syndrome.
Data collected from 11 tertiary teaching hospitals in China between January 2015 and January 2020.
Utilized karyotype analysis, hormone profiling, pelvic ultrasonography, spinal roentgenograms, and urologic ultrasonography.

Main Results:

Skeletal malformations were the most frequent extragenital anomalies (22.0%), primarily idiopathic scoliosis and congenital vertebral malformations.
Renal malformations occurred in 9.7% of patients, with unilateral renal agenesis and ectopic kidney being most common.
Type I MRKH syndrome was diagnosed in 69.6% of patients, and Type II in 30.4%.

Conclusions:

Skeletal malformations are more prevalent than renal malformations in Chinese patients with MRKH syndrome.
Type II MRKH syndrome appears less common in Chinese patients compared to European counterparts.
This study highlights the importance of screening for extragenital malformations in MRKH syndrome patients.

Read full analysis

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.

Keywords:

Chinese population Mayer-Rokitansky-Küster-Hauser syndrome clinical characteristic extragenital malformation female genital malformation

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