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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.
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Keywords
MRKH (Mayer–Rokitansky–Küster–Hauser) syndrome
etiology
clinical characteristic
diagnosis
treatment
psychological effect
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Corresponding Author(s):
Lan Zhu
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Just Accepted Date: 17 November 2022
Online First Date: 22 December 2022
Issue Date: 16 January 2023
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