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
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
Cell & Tissue Engineering
Jayson Sueters, Freek A. Groenman, Mark-Bram Bouman, Jan Paul W. Roovers, Ralph de Vries, Theo H. Smit, Judith A. F. Huirne
Summary: The potential of tissue engineering for vaginoplasty was studied and analyzed, showing a wide range of cell types, biomaterials, and signaling factors used. Autologous vaginal cells and extracellular matrix-based biomaterials showed promise, and stem cells were found to have potential. However, further research and clinical trials are needed to confirm the quality and effectiveness of cell-seeded acellular vaginal matrix and explore the use of signaling factors for vaginoplasty.
TISSUE ENGINEERING PART B-REVIEWS
(2023)
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
Multidisciplinary Sciences
Valeria Stella Vanni, Alessandra Alteri, Lucia De Santis, Greta Chiara Cermisoni, Elisa Rabellotti, Diana Delprato, Marta Parma, Enrico Papaleo, Luigi Fedele, Massimo Candiani
Summary: In MRKHS patients, simultaneous laparoscopic oocyte retrieval and cryopreservation can be performed during laparoscopic vaginoplasty, reducing surgical invasiveness and anesthesiologic risks.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(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)
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
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)
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)
Article
Obstetrics & Gynecology
Zhi-yang Xu, Ling-xia Li, Xing-guo Wang, Meng-xin Wang, Gai-jing Cao, Bi-liang Chen, Shu-juan Liu
Summary: This study investigated the long-term outcomes for MRKH syndrome patients undergoing vaginoplasty using SIS grafts. The results showed that nearly half of the patients maintained good sexual function after the surgery. Both sexual function and psychological status improved as postoperative time increased. Additionally, reducing the diagnosis to surgery interval was associated with improved psychological function.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Oncology
Chao Zhang, Fan Zhang, Xiu Wang, Shuncang Zhang
Summary: This study reports a modified MVLESS procedure using self-made instruments to create a new vagina for MRKHS patients. The procedure is simple, safe, and minimally invasive, providing satisfactory anatomical and sexual function. However, fertility problems for patients with congenital absence of vagina remain a challenge.
ANNALS OF TRANSLATIONAL MEDICINE
(2022)
Article
Genetics & Heredity
Na Chen, Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan, Shaoke Chen, Andre Koch, Congcong Ma, Weijie Tian, Ziqi Jia, Jia Kang, Lina Zhao, Chenglu Qin, Xin Fan, Katharina Rall, Zeynep Coban-Akdemir, Zefu Chen, Shalini Jhangiani, Ze Liang, Yuchen Niu, Xiaoxin Li, Zihui Yan, Yong Wu, Shuangshuang Dong, Chengcheng Song, Guixing Qiu, Shuyang Zhang, Pengfei Liu, Jennifer E. Posey, Feng Zhang, Guangnan Luo, Zhihong Wu, Jianzhong Su, Jianguo Zhang, Eugenia Y. Chen, Konstantinos Rouskas, Stavros Glentis, Flora Bacopoulou, Efthymios Deligeoroglou, George Chrousos, Stanislas Lyonnet, Michel Polak, Carla Rosenberg, Irene Dingeldein, Ximena Bonilla, Christelle Borel, Richard A. Gibbs, Jennifer E. Dietrich, Antigone S. Dimas, Stylianos E. Antonarakis, Sara Y. Brucker, James R. Lupski, Nan Wu, Lan Zhu
Summary: This study identified 12 likely gene-disrupting variants in 7 genes that are essential for Mullerian/Wolffian ducts development in individuals with MRKHS, and these variants were not found in control samples. Interestingly, there was a sex-limited penetrance with paternal inheritance in multiple families. Furthermore, a syndromic condition characterized by congenital hypothyroidism and MRKHS was identified in one individual from a PAX8-associated cohort.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
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)
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.
Article
Medicine, General & Internal
Silvia Serrano, Ines Pereira, Alexandra Henriques, Alexandre Valentim-Lourenca
Summary: This study describes a surgical technique for reconstructing a neovagina from an ileal segment without a vascular pedicle. The technique involves three steps, including laparoscopic hysterectomy, isolation and preparation of the ileal segment, and repositioning of the segment in a vaginal mold. Ileal vaginoplasty without a vascular pedicle is a viable option for patients with genital malformations.
ACTA MEDICA PORTUGUESA
(2023)
Article
Pharmacology & Pharmacy
Chong Li, Yi Tian, Anhui Yao, Xiaobing Zha, Jianbin Zhang, Ye Tao
FRONTIERS IN PHARMACOLOGY
(2020)
Article
Multidisciplinary Sciences
W. M. Liu, R. R. Cheng, Z. R. Niu, A. C. Chen, M. Y. Ma, T. Li, P. C. Chiu, R. T. Pang, Y. L. Lee, J. P. Ou, Y. Q. Yao, W. S. B. Yeung
Article
Genetics & Heredity
Sai Liu, Hui Wang, Don Leigh, David S. Cram, Li Wang, Yuanqing Yao
Summary: The study explored the use of third-generation sequencing (TGS) Oxford Nanopore system for preimplantation genetic testing (PGT), showing promising results in identifying genetic variations and differentiating carrier embryos. The low cost of the instrument also makes it an economical option for laboratories wanting to perform onsite PGT.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Obstetrics & Gynecology
Yanfei Cheng, Qian Yu, Minyue Ma, Hui Wang, Shuang Tian, Wenling Zhang, Jinning Zhang, Yifan Liu, Qi Yang, Xiao Pan, Hongbin Liang, Li Wang, Don Leigh, David S. Cram, Yuanqing Yao
Summary: This study aimed to utilize long-read, third-generation sequencing as part of a general strategy for structural rearrangement and monogenic disease embryo testing. The results demonstrated successful achievement of high definition chromosome breakpoints in 15 couples undergoing PGT-SR, and identification of tightly linked informative markers for two couples undergoing PGT-M. The selection of informative markers around the target is crucial for couples considering clinical PGT.
FERTILITY AND STERILITY
(2021)
Article
Developmental Biology
Dandan Cao, Fu Shi, Chenxi Guo, Ye Liu, Zexiong Lin, Juanhui Zhang, Raymond Hang Wun Li, Yuanqing Yao, Kui Liu, Ernest Hung Yu Ng, William Shu Biu Yeung, Tianren Wang
Summary: A pathogenic gene causing both NOA and DOR was identified through whole-exome sequencing in a non-consanguineous family, with further studies in a Dmc1 knockout mouse model revealing differences in DMC1 function between humans and mice.
MOLECULAR HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Li Wang, Xiaohong Wang, Yun Liu, Xianghong Ou, Min Li, Lei Chen, Xiaoguang Shao, Song Quan, Jinliang Duan, Wei He, Huan Shen, Ling Sun, Yuexin Yu, David S. Cram, Donald Leigh, Yuanqing Yao
Summary: The study revealed that routine morphology-based embryo selection resulted in a high euploid selection rate, but a significant number of aneuploid embryos were still inadvertently selected for transfer, leading to high failure rates in pregnancy initiation and progression.
PRENATAL DIAGNOSIS
(2021)
Article
Genetics & Heredity
Xiaoyun Yin, Jianxiu Hao, Yuanqing Yao
Summary: This study successfully generated an fbn1(+/-) mutant zebrafish model using CRISPR/Cas9 technology, with F2 fbn1(+/-) zebrafish showing decreased pigmentation, increased lengths, slender body shape, and abnormal cardiac blood flow compared to wild-type controls.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Immunology
Baimei Zhuang, Jin Shang, Yuanqing Yao
Summary: HLA-G plays a crucial role in maternal-fetal immune tolerance, maintaining immune homeostasis and considered a key factor for successful pregnancies. Understanding the characteristics of HLA-G is important for treating pathological pregnancies and other immune-related diseases.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Obstetrics & Gynecology
Yunhai Chuai, Wen Jiang, Lanmei Zhang, Fang Chuai, Xiuyan Sun, Kefei Peng, Jinfang Gao, Tong Dong, Lei Chen, Yuanqing Yao
Summary: This study found that maternal long-duration high-concentration oxygen administration during labor did not affect the umbilical cord venous partial pressure of oxygen or fetal heart rate pattern distribution, but resulted in a deterioration of the umbilical cord arterial pH at birth.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Review
Obstetrics & Gynecology
Xinmeng Guo, Shuang Tian, Hui Wang, Jinning Zhang, Yanfei Cheng, Yuanqing Yao
Summary: This study evaluated the efficacy and safety of five different approaches to cervical cancer surgery. The results showed that the survival outcomes and tumor recurrence outcomes were similar among the different surgical approaches.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2023)
Article
Obstetrics & Gynecology
Sai Liu, Guoxuan Wu, Li Wang, Yanyan Zhao, Yongqing Lv, Nannan Dang, Yuanqing Yao
Summary: This study aimed to explore the influence of sperm preincubation time on fertilization rate, embryo development and clinical outcomes in in vitro fertilization cycles. The results showed that the optimal preincubation time for prepared sperm before insemination in IVF is one to four hours at 37 degrees C with 6% CO2, which can improve sperm fertilizing ability, blastocyst formation, embryo implantation and cumulative live birth rate.
GINEKOLOGIA POLSKA
(2023)
Article
Oncology
Tao Su, Hui Wang, Yuanqing Yao
Summary: This study explored novel nucleic acid aptamer gold nanoparticles to efficiently detect soluble HLA-G5, demonstrating high affinity and potential usefulness in the field of obstetrics-gynecology for diagnosis and treatment purposes.
ANNALS OF TRANSLATIONAL MEDICINE
(2021)
Article
Genetics & Heredity
Zhanhui Ou, Zhiheng Chen, Minna Yin, Yu Deng, Yunhao Liang, Wenjun Wang, Yuanqing Yao, Ling Sun
Article
Surgery
Yanyan Zhao, Zhongyu Liu, Ling Yu, Sai Liu, Hong Yan, Yan Zhang, Yuanqing Yao
VIDEOSURGERY AND OTHER MINIINVASIVE TECHNIQUES
(2020)
Review
Medicine, General & Internal
Meng Zhao, Ye Tao, Guang-Hua Peng
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2020)