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Front. Med.    2022, Vol. 16 Issue (6) : 859-872    https://doi.org/10.1007/s11684-022-0969-3
REVIEW
Update on Mayer–Rokitansky–Küster–Hauser syndrome
Na Chen1, Shuang Song1, Xinmiao Bao1,2, Lan Zhu1()
1. National Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China
2. Peking Union Medical College, M.D. Program, Beijing 100730, China
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Abstract

This review presents an update of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome on its etiologic, clinical, diagnostic, psychological, therapeutic, and reproductive aspects. The etiology of MRKH syndrome remains unclear due to its intrinsic heterogeneity. Nongenetic and genetic causes that may interact during the embryonic development have been proposed with no definitive etiopathogenesis identified. The proportion of concomitant extragenital malformations varies in different studies, and the discrepancies may be explained by ethnic differences. In addition to physical examination and pelvic ultrasound, the performance of pelvic magnetic resonance imaging is crucial in detecting the presence of rudimentary uterine endometrium. MRKH syndrome has long-lasting psychological effects on patients, resulting in low esteem, poor coping strategies, depression, and anxiety symptoms. Providing psychological counseling and peer support to diagnosed patients is recommended. Proper and timely psychological intervention could significantly improve a patient’s outcome. Various nonsurgical and surgical methods have been suggested for treatment of MRKH syndrome. Due to the high success rate and minimal risk of complications, vaginal dilation has been proven to be the first-line therapy. Vaginoplasty is the second-line option for patients experiencing dilation failure. Uterine transplantation and gestational surrogacy are options for women with MRKH syndrome to achieve biological motherhood.
Keywords MRKH (Mayer–Rokitansky–Küster–Hauser) syndrome      etiology      clinical characteristic      diagnosis      treatment      psychological effect     
Corresponding Author(s): Lan Zhu   
Just Accepted Date: 17 November 2022   Online First Date: 22 December 2022    Issue Date: 16 January 2023
 Cite this article:   
Na Chen,Shuang Song,Xinmiao Bao, et al. Update on Mayer–Rokitansky–Küster–Hauser syndrome[J]. Front. Med., 2022, 16(6): 859-872.
 URL:  
https://academic.hep.com.cn/fmd/EN/10.1007/s11684-022-0969-3
https://academic.hep.com.cn/fmd/EN/Y2022/V16/I6/859
Fig.1  Etiology of MRKH syndrome.
Reference Cases of MRKH Cases of CNVs CNVs Candidate genes Phenotypes
Chromosome Rearrangement Size
Sundaram et al., 2007, USA [62] 1 1 22q11.2 Deletion NA 　 Type II
Cheroki et al., 2008, Brazil [63]　 14　 1 22q11.2 Deletion 2.6 Mb 　 Type II
1 17q12 Deletion 1.2 Mb LHX1 and HNF1β Type II
Bernardini et al., 2009, Italy [64] 22 2 17q12 Deletion 1.5 Mb LHX1 and HNF1β Type II
Nik-Zainal et al., 2011, Germany [65] 63 4 16p11.2 Deletion 0.55 Mb TBX6 Two type I and two type II
4 17q12 Deletion 1.4 Mb LHX1 and HNF1β One type I and three type II
1 22q11.2 Deletion 0.39 Mb 　 Type II
Ledig et al., 2011, Germany [49] 48 1 1q21.1 Deletion 0.4 Mb 　 Type II
1 22q11.2 Deletion 0.4 Mb 　 Type I
2 17q12 Deletion 1.4 Mb LHX1 and HNF1β One type I and one type II
Morcel et al., 2011, France [66] 57 1 22q11.2 Deletion 3 Mb 　 Type II
Hinkes et al., 2012, Germany [67] 1 1 17q12 Deletion 1.43 Mb LHX1 and HNF1β Type II
Sandbacka et al., 2013, Finland [51] 112 5 16p11.2 Deletion 0.53 Mb TBX6 ND
1 17q12 Deletion 1.7 Mb LHX1 and HNF1β ND
McGowan et al., 2015, UK [68] 1 1 17q12 Deletion 1.9 Mb LHX1 and HNF1β Type II
Chen et al., 2021, China [23] 442 4 16p11.2 Deletion 2.36 Mb TBX6 Type II
2 17q12 Deletion 3.54 Mb LHX1 and HNF1β One type I and one type II
Tab.1  Reports of patients with MRKH syndrome with CNVs in recurrently affected regions 16q11.2, 17q12, and 22q11.2
Reference Patient number (n) Type II (%) Unilateral kidney (%)a Scoliosis (%)b Cardiac (%) Neurologic (%)
Oppelt et al., 2006, England [78] 53 52.8 22.6 11.3 5.7 3.8
Creatsas et al., 2010, Greece [79] 200 ND 31.0 5.5 ND ND
Oppelt et al., 2012, England [80] 282 44.7 18.7 ND 3.5 4.9
Rall et al., 2015, Germany [81] 346 46.8 12.7 11.0 2.6 ND
Kapczuk et al., 2016, Poland [82] 125 54.4 15.2 16.8 ND ND
Herlin et al., 2016, Denmark [3] 168 43.5 21.6 ND 3.6 1.8
Pan et al., 2016, China [83] 594 7.2 3.9 1.2 0.5 ND
Deng et al., 2019, China [84] 274 28.1 6.2 15.7 1.5 0.36
Chen et al., 2021, China [9] 1055 30.4 4.7 20.3 1.8 0.57
Tab.2  Summary of the phenotypic analysis of patients with MRKH syndrome in previous studies
Fig.2  MR images of the existence of endometrial tissues in rudimentary uterus. (A) Axial fat-saturated T2W1 MR image shows endometrial tissues in the left rudimentary uterus (red arrow) and (B) no endometrium is detected in the right rudimentary uterus (red arrow).
Reference Sample size Measurements Results
Heller-Boersma et al., 2009 [95] 66 patients with MRKH syndrome31 healthy controls SCL-90-Ra Trend to anxiety and depression in patients with MRKH syndrome
Gatti et al., 2010 [105] 40 patients with MRKH syndrome30 healthy controls BDIb No significant difference observed
Liao et al., 2011 [96] 54 patients with MRKH syndrome HADSc Higher anxiety scores in patientsNo difference observed in depression scores
Katharina Leithner et al., 2015 [106] 10 patients with MRKH syndrome20 controls in PAGd unit PHQe No significant difference observed
Weijenborg et al., 2019 [97] 54 patients with MRKH syndrome79 healthy controls SCL-90-R, HADS No significant difference observed
Song et al., 2020 [107]Chen et al., 2020 [104] 141 patients with MRKH syndrome178 healthy controls PHQ, GAD-7f More severe anxiety and depressive symptoms observed in patients
Tab.3  Depression and anxiety of patients with MRKH syndrome
Treatment Advantages Disadvantages
Vaginal dilation therapy Non-invasiveCost-effectiveSelf-controlledMinimal risks of complication Time-consumingRisk of low complianceAnxiety arousing during dilationDiscomfort and pain
Baldwin method Significant longer vaginal lengthSatisfactory lubricationLow rate of stricture Intestinal surgery related complications (postoperative intestinal fistula, obstruction, infection, and stenosis)Relative high risk of vaginal prolapseUnpleasant odor of discharge
Davydov method Minimally invasive procedure by laparoscopy Post-operative dilation neededLonger duration for epithelizationRisk of bladder and rectum injuriesLimited lubrication
McIndoe method Vaginal approach, no scars in abdomenSimple operation Donor-site scarsHair growth in neovaginaLimited lubricationPost-operative dilation needed
William’s method Simple operation Hair growth in neovaginaDifficulty in penetration during intercourseRisk of hematoma and wound infectionPost-operative dilation needed
Tissue-engineered biomaterials Minimally invasive with no visible scarsSimple operation ExpensivePost-operative dilation needed
Tab.4  Advantages and disadvantages of surgical and non-surgical methods
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