Open AccessRecent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome
Author(s) -
Keiko Watanabe,
Yusuke Kobayashi,
Kouji Banno,
Yusuke Matoba,
Haruko Kunitomi,
Kenzo Nakamura,
Manabu Adachi,
Kiyoko Umene,
Iori Kisu,
Eiichiro Tominaga
Publication year - 2017
Publication title -
biomedical reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2017.929
Subject(s) - mayer rokitansky kuster hauser syndrome , molecular medicine , oncogene , medicine , cell cycle , cancer , anatomy , vagina
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.