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
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
Physiology
Too Lih Yuan, Nadiah Sulaiman, Abdul Ghani Nur Azurah, Manira Maarof, Muhammad Dain Yazid
Summary: This review assesses the impact of various factors on estrogen-mediated epithelial-mesenchymal transition in female reproductive tract diseases, particularly endometriosis. The results suggest that epithelial-mesenchymal transition is a major cause of reproductive-related diseases, potentially mediated by estrogen and Wnt4 aberration.
FRONTIERS IN PHYSIOLOGY
(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
Christine M. Pennesi, Emily M. English, Sarah Bell, Amy C. Lossie, Elisabeth H. Quint, Carolyn W. Swenson
Summary: Mayer-Rokitansky-Kuster-Hauser syndrome, a rare condition, is associated with common urinary, prolapse, and bowel symptoms. Vaginal lengthening treatments do not significantly affect the prevalence of pelvic floor symptoms, except for recent urinary and anal incontinence. Further research is needed to understand the impact of different vaginal lengthening treatments on pelvic floor symptoms.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(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.
Review
Obstetrics & Gynecology
Francesco Fedele, Alessandro Bulfoni, Stefano Salvatore, Massimo Candiani
Summary: The MRKH syndrome is the most common cause of uterine aplasia, with legal adoption being the only option until recently. Now gestational surrogacy (GS) and uterine transplantation (UTx) are new fertility options, with UTx facing challenges due to complexity and necessary immunologic therapies.
CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY
(2021)
Article
Biology
Paola Pontecorvi, Francesca Megiorni, Simona Camero, Simona Ceccarelli, Laura Bernardini, Anna Capalbo, Eleni Anastasiadou, Giulia Gerini, Elena Messina, Giorgia Perniola, Pierluigi Benedetti Panici, Paola Grammatico, Antonio Pizzuti, Cinzia Marchese
Summary: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare and complex disease characterized by congenital aplasia of the vagina and uterus in 46,XX women, often with kidney and urinary tract abnormalities. The etiology of MRKH syndrome is largely unknown, but this study suggests that dysregulation of PRKX expression may be a possible molecular cause. The study highlights the potential role of PRKX in the biology of vaginal keratinocytes as a mechanism underlying this complex disease.
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)
Editorial Material
Cardiac & Cardiovascular Systems
Amjad Soltany, Arabi Abbas, Nour Sbainy, Ahed Haj Ibrahim, Nizar Abbas
Summary: This article reports a rare case of a giant mediastinal teratoma occupying the entire hemithorax and causing complete lung whiteout. The diagnosis and complete surgical resection of such tumors are challenging, and the details are presented in a 24-year-old Syrian woman previously diagnosed with Mayer-Rokitansky-Kuster-Hauser syndrome. Additionally, the simultaneous occurrence of Mayer-Rokitansky-Ktister-Hauser syndrome and a mediastinal mature teratoma is documented.
ANNALS OF THORACIC SURGERY
(2022)
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
Mireia Tugues, Bernardo Nunez, Raquel Corripio
Summary: MRKH syndrome is a rare condition caused by incomplete development of the Müllerian ducts, often resulting in congenital absence of the uterus and upper vagina without other abnormalities. In the case reported, initial diagnosis of MRKH syndrome was made based on normal secondary sex characteristics, karyotype, and hormone profile, but subsequent imaging revealed the presence of a left-deviated unicornuate uterus after vaginal bleeding.
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)
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)
Article
Genetics & Heredity
Chunfang Chu, Lin Li, Shenghui Li, Qi Zhou, Ping Zheng, Yu-Di Zhang, Ai-Hong Duan, Dan Lu, Yu-Mei Wu
Summary: This study identified several novel genes, especially TBC1D1, related to the pathogenesis of MRKH syndrome. These new findings provide new insights into our understanding of MRKH syndrome and also serve as a molecular genetic reference for the study of reproductive tract development.