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Update on Mayer—Rokitansky—Küster—Hauser syndrome

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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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Acknowledgements

All authors listed have made a substantial and direct contribution to the work and approved it for publication. We sincerely thank the National Key Research and Development Program of China (Nos. 2021YFC2701401 and 2021YFC2701405), the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences (Nos. 2020-PT320-003 and 2021-PT320-001) and the National Natural Science Foundation of China (Nos. 82171614 and 81830043).

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  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

    Na Chen, Shuang Song, Xinmiao Bao & Lan Zhu

  2. Peking Union Medical College, M.D. Program, Beijing, 100730, China

    Xinmiao Bao

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  1. Na Chen
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Na Chen, Shuang Song, Xinmiao Bao, and Lan Zhu declare that they have no conflict of interest. This manuscript is a review article and does not involve a research protocol requiring approval by the relevant institutional review board or ethics committee.

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Chen, N., Song, S., Bao, X. et al. Update on Mayer—Rokitansky—Küster—Hauser syndrome. Front. Med. 16, 859–872 (2022). https://doi.org/10.1007/s11684-022-0969-3

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