Review
Oncology
Na Chen, Shuang Song, Xinmiao Bao, Lan Zhu
Summary: This review provides an update on the etiology, clinical manifestations, diagnosis, psychological impact, treatment, and reproductive options for Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. The underlying causes of MRKH syndrome remain unclear, with both genetic and non-genetic factors proposed. The syndrome has a significant psychological impact on patients, leading to low self-esteem, poor coping strategies, and symptoms of depression and anxiety. Psychological counseling and peer support are recommended for diagnosed patients. Vaginal dilation is the first-line therapy, with vaginal reconstruction as the second-line option for those who do not respond to dilation. Uterine transplantation and gestational surrogacy are potential options for women with MRKH syndrome to achieve biological motherhood.
FRONTIERS OF MEDICINE
(2022)
Article
Medicine, General & Internal
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, Nico Weber, Katharina Rall, Marc Sturm, Oliver Kohlbacher, Andre Koch, Olaf Riess, Sara Y. Brucker, Julia M. Schulze-Hentrich
Summary: By analyzing the genetic material of discordant monozygotic twins with MRKH, potential genetic causes were identified. The study revealed the involvement of estrogen in the pathology of MRKH, although no clear pathogenic differences were detected.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Obstetrics & Gynecology
Nicole Fischer, Helen Xun, Amy Lossie, Darya Fadavi, Halley Darrach, Pooja Yesantharao, Franca Kraenzlin, Bhuchitra Singh, Justin M. Sacks, James H. Segars
Summary: The study found that most individuals with MRKH syndrome believe that uterine transplantation should be an option for all women with uterine factor infertility and should be covered by health insurance. Many participants perceived the benefits of the procedure to outweigh the risks and considered it to be an ethical procedure.
FERTILITY AND STERILITY
(2021)
Review
Medicine, General & Internal
Yifei Dai, Chenglu Qin, Linling Zhu, Guangnan Luo
Summary: MRKH syndrome with genital inguinal hernia is rare and often underreported. This article presents 3 cases of this syndrome and highlights the importance of accurate diagnosis.
Editorial Material
Obstetrics & Gynecology
Mykhailo Medvediev, Dmytro Spesyvtsev, Dar'ya Pokrovenko
Summary: This study presented a novel approach to vaginoplasty in a patient with vaginal aplasia and a preserved cervix. The surgical procedure successfully restored normal vaginal anatomy and function, with the patient experiencing no postoperative complications and engaging in sexual activity during the follow-up period. The approach of cervicovulvar anastomosis was found to be more feasible in cases of preserved distended cervix, leading to better outcomes compared to traditional techniques.
FERTILITY AND STERILITY
(2021)
Article
Obstetrics & Gynecology
Xiwa Zhao, Yanan Zhang, Mengmeng Zhang, Haibo Zhang, Yunjie Tian, Shan Kang
Summary: The study compared two laparoscopic vaginoplasty techniques, Hebei I and Hebei II, for patients with MRKH syndrome. Both techniques achieved anatomical and functional success, but the Hebei II technique had a shorter operative time, less neovaginal secretions, and fewer granulomatous polyps postoperatively.
INTERNATIONAL UROGYNECOLOGY JOURNAL
(2022)
Review
Pediatrics
Varvara Ermioni Triantafyllidi, Despoina Mavrogianni, Andreas Kalampalikis, Michael Litos, Stella Roidi, Lina Michala
Summary: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition characterized by the absence of the uterus and part of the vagina in females. Numerous genetic defects have been associated with MRKH syndrome, and this study aimed to identify the most affected chromosomal areas and genes to aid in genetic counseling for patients.
Article
Cardiac & Cardiovascular Systems
Yifan Zeng, Yerong Hu, Bo Jiang, Ling Tan, Hao Tang
Summary: This is the first reported case in the world of early-onset recurrent aortic dissection combined with MRKH syndrome and 46,XX gonadal dysgenesis.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Editorial Material
Obstetrics & Gynecology
Guiling Liang, Wei Xia, Yan Liang, Qian Zhu, Lujia Zou, Jian Zhang, Haowen Jiang
Summary: The article describes the treatment of a 28-year-old female patient with Mayer-Rokitansky-Ku ster-Hauser syndrome using laparoscopic surgery, as well as ureteral reimplantation for hydronephrosis. The surgical procedures included creating a neovaginal vault and removing a cyst laparoscopically, showing successful outcomes in terms of sexual function and reduction of hydronephrosis.
FERTILITY AND STERILITY
(2021)
Article
Genetics & Heredity
Kaizhen Su, Han Liu, Xiaoqun Ye, Hangmei Jin, Zhenwei Xie, Chunbo Yang, Daizhan Zhou, Hefeng Huang, Yanting Wu
Summary: This study identified 16p11.2 deletions in Chinese MRKH type I patients for the first time, supporting the association of 16p11.2 microdeletions with MRKH syndrome across populations. It suggests that 16p11.2 microdeletions should be considered in molecular diagnosis and genetic counseling of female reproductive tract disorders.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Pediatrics
Wei Jin, Chunjian Gu, Zhenghua Fei, Jingying Fei, Gesheng Wen, Yanhua Min, Dongchan Chen, Wei Wu
Summary: This article reports a case of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome combined with idiopathic central precocious puberty (ICPP). The patient, a 7-year-old girl, presented with bilateral breast development and relatively low body height. Treatment resulted in normal height and delayed bone age development. This case highlights the possibility of concurrent precocious puberty in MRKH syndrome patients and emphasizes the importance of careful monitoring and assessment of gonads and sexual organs in children with precocious puberty.
TRANSLATIONAL PEDIATRICS
(2023)
Review
Biology
Isaac Kyei-Barffour, Miranda Margetts, Alla Vash-Margita, Emanuele Pelosi
Summary: MRKH syndrome is a disorder caused by Mullerian ducts dysgenesis affecting women with a typical karyotype. The etiology is complex and largely unexplained, with possible genetic and epigenetic factors involved. Understanding the molecular mechanisms and improving clinical management remains a challenge due to limited research in functional validation and translational studies.
YALE JOURNAL OF BIOLOGY AND MEDICINE
(2021)
Article
Medicine, General & Internal
Iori Kisu, Miho Iida, Kanako Nakamura, Kouji Banno, Tetsuro Shiraishi, Asahi Tokuoka, Keigo Yamaguchi, Kunio Tanaka, Moito Iijima, Hiroshi Senba, Kiyoko Matsuda, Nobumaru Hirao
Summary: The Kisu modification of laparoscopic vaginoplasty procedure is effective, feasible, and safe for creating neovagina in patients with MRKH syndrome. All surgeries were successful without complications, achieving both anatomical and functional success.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Obstetrics & Gynecology
Shuyi Shao, Xiao Wang, Xiaohong Lei, Keqin Hua, Ying Zhang
Summary: MRKH patients have a high risk of depression and anxiety problems after artificial vaginoplasty, and early psychological intervention can alleviate these symptoms.
INTERNATIONAL UROGYNECOLOGY JOURNAL
(2022)
Article
Obstetrics & Gynecology
Massimo Origoni, Francesco Fedele, Marta Parma, Simona Di Fatta, Valentino Bergamini, Massimo Candiani, Luigi Fedele
Summary: The study investigated the clinical appearance and morphologic aspects of the peritoneal neovagina in patients with Mayer-Rokitansky-Kuster-Hauser syndrome after laparoscopic Davydov neovaginoplasty. Various follow-up tests showed that the peritoneal neovagina epithelium displayed similar aspects to the natal mucosa of the vagina after a minimum of 6 months post-surgery, with adequate thickness, differentiation, and glycogen storage in the new mucosa. The main difference compared with a normal vagina was the reduced presence of vaginal mucosal folds.
JOURNAL OF MINIMALLY INVASIVE GYNECOLOGY
(2021)
Article
Medicine, General & Internal
Eliana Montanari, Richard Schwameis, Marisa Louridas, Christian Goebl, Lorenz Kuessel, Stephan Polterauer, Heinrich Husslein
Article
Endocrinology & Metabolism
Katharina Proestling, Peter Birner, Sukirthini Balendran, Nadine Nirtl, Erika Marton, Gulen Yerlikaya, Lorenz Kuessel, Theresa Reischer, Rene Wenzl, Berthold Streubel, Heinrich Husslein
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2016)
Article
Medicine, Research & Experimental
Alexandra Perricos, Kazem Ashjaei, Heinrich Husslein, Katharina Proestling, Lorenz Kuessel, Reinhard Obwegeser, Rene Wenzl, Iveta Yotova
EXPERIMENTAL BIOLOGY AND MEDICINE
(2018)
Article
Obstetrics & Gynecology
L. Kuessel, R. Wenzl, K. Proestling, S. Balendran, P. Pateisky, I. Yotova, G. Yerlikaya, B. Streubel, H. Husslein
HUMAN REPRODUCTION
(2017)
Article
Obstetrics & Gynecology
Heinrich Husslein, Helena Frecker, Eliane M. Shore, Guylaine Lefebvre, Eleanor Latta, Eliana Montanari, Abheha Satkunaratnam
JOURNAL OF MINIMALLY INVASIVE GYNECOLOGY
(2017)
Article
Computer Science, Information Systems
Klaus Schoeffmann, Heinrich Husslein, Sabrina Kletz, Stefan Petscharnig, Bernd Muenzer, Christian Beecks
MULTIMEDIA TOOLS AND APPLICATIONS
(2018)
Article
Obstetrics & Gynecology
Eliana Montanari, Christoph Grimm, Richard Schwameis, Lorenz Kuessel, Stephan Polterauer, Chiara Paternostro, Heinrich Husslein
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2018)
Article
Nursing
Marie-Louise Marschalek, Christof Worda, Lorenz Kuessel, Heinz Koelbl, Willi Oberaigner, Hermann Leitner, Julian Marschalek, Heinrich Husslein
BIRTH-ISSUES IN PERINATAL CARE
(2018)
Article
Obstetrics & Gynecology
Lorenz Kuessel, Harald Zeisler, Gottfried Himmler, Michael Kundi, Eliana Montanari, Julia Binder, Heinrich Husslein, Julian Marschalek, Johannes Ott
PREGNANCY HYPERTENSION-AN INTERNATIONAL JOURNAL OF WOMENS CARDIOVASCULAR HEALTH
(2018)
Article
Medicine, General & Internal
Eliana Montanari, Richard Schwameis, Nikolaus Veit-Rubin, Lorenz Kuessel, Heinrich Husslein
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Medicine, General & Internal
Alexandra Perricos, Rene Wenzl, Heinrich Husslein, Thomas Eiwegger, Manuela Gstoettner, Andreas Weinhaeusel, Gabriel Beikircher, Lorenz Kuessel
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Medicine, General & Internal
Christine Bekos, Raffaela Morgenbesser, Heinz Koelbl, Heinrich Husslein, Wolfgang Umek, Klaus Bodner, Barbara Bodner-Adler
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Medicine, General & Internal
Marie-Louise Marschalek, Wolfgang Umek, Heinz Koelbl, Nikolaus Veit-Rubin, Barbara Bodner-Adler, Heinrich Husslein
Summary: This study evaluated the current practice patterns and methods of post-void residual (PVR) measurement among urogynecologists. Most urogynecologists conduct voiding trials to assess postoperative voiding function, but there are significant differences in catheterization cut-off values, measurement methods, and successful voiding thresholds. There is an opportunity to develop a standardized management regimen based on evidence for urinary retention after urogynecologic surgery.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Developmental Biology
Katharina Proestling, Iveta Yotova, Susanne Gamperl, Christoph Hauser, Rene Wenzl, Christian Schneeberger, Ladislaus Szabo, Mario Mairhofer, Heinrich Husslein, Lorenz Kuessel
MOLECULAR HUMAN REPRODUCTION
(2019)
Proceedings Paper
Computer Science, Interdisciplinary Applications
Marco A. Hudelist, Bernd Muenzer, Sabrina Kletz, Klaus Schoeffmann, Heinrich Husslein
2017 IEEE THIRD INTERNATIONAL CONFERENCE ON MULTIMEDIA BIG DATA (BIGMM 2017)
(2017)
