Watanabe Keiko, Kobayashi Yusuke, Banno Kouji, Matoba Yusuke, Kunitomi Haruko, Nakamura Kanako, Adachi Masataka, Umene Kiyoko, Kisu Iori, Tominaga Eiichiro, Aoki Daisuke
Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo 160-8582, Japan.
Biomed Rep. 2017 Aug;7(2):123-127. doi: 10.3892/br.2017.929. Epub 2017 Jun 21.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a disease caused by congenital absence of the uterus and two-thirds of the upper vagina. The pathogenic mechanism of MRKHS may involve gene abnormalities, and there are various case reports associating MRKHS with the Wnt family member 4 () mutation. Analysis of genes mapped to regions in which deletion and duplication are frequently detected in patients with MRKHS has shown involvement of LIM homeobox 1 (), HNF1 homeobox B () and T-box 6 (). In addition, there are case reports of MRKHS caused by chromosomal translocation and epigenetic function may be involved in MRKHS onset. Overexpression of and overexposure to estrogen may contribute to the onset and regulation of expression by methylation as a pathogenic mechanism. Determination of the molecular basis of MRKHS is in progress, but current treatment only includes vaginal enlargement and vaginoplasty for improved quality of life. Clinical application of uterine transplantation to allow childbearing by MRKHS patients is under investigation and clinical trials are underway around the world.
迈耶-罗基坦斯基-库斯特-豪泽综合征（MRKHS）是一种由先天性子宫及三分之二上阴道缺失引起的疾病。MRKHS的致病机制可能涉及基因异常，并且有各种病例报告将MRKHS与Wnt家族成员4（）突变相关联。对映射到在MRKHS患者中经常检测到缺失和重复的区域的基因分析表明，LIM同源框1（）、肝细胞核因子1同源框B（）和T盒6（）参与其中。此外，有染色体易位导致MRKHS的病例报告，并且表观遗传功能可能参与MRKHS的发病。作为一种致病机制，的过表达和雌激素的过度暴露可能通过甲基化导致发病并调节表达。MRKHS分子基础的确定正在进行中，但目前的治疗仅包括阴道扩张和阴道成形术以改善生活质量。子宫移植的临床应用以使MRKHS患者能够生育正在研究中，世界各地正在进行临床试验。
