Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome (Review)

Keiko Watanabe, Yusuke Kobayashi, Kouji Banno, Yusuke Matoba, Haruko Kunitomi, Kanako Nakamura, Masataka Adachi, Kiyoko Umene, Iori Kisu, Eiichirou Tominaga, Daisuke Aoki

研究成果: Review article査読

10 被引用数 (Scopus)


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 (Wnt4) 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 (LHX1), HNF1 homeobox B (HNF1B) and T-box 6 (TBX6). In addition, there are case reports of MRKHS caused by chromosomal translocation and epigenetic function may be involved in MRKHS onset. Overexpression of HOXA 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.

ジャーナルBiomedical Reports
出版ステータスPublished - 2017 8月

ASJC Scopus subject areas

  • 神経科学一般
  • 生化学、遺伝学、分子生物学一般
  • 薬理学、毒性学および薬学(全般)


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