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- Title
Recent advances in the molecular mechanisms of Mayer‑Rokitansky‑Küster‑Hauser syndrome (Review).
- Authors
KEIKO WATANABE; YUSUKE KOBAYASHI; KOUJI BANNO; YUSUKE MATOBA; HARUKO KUNITOMI; KANAKO NAKAMURA; MASATAKA ADACHI; KIYOKO UMENE; IORI KISU; EIICHIRO TOMINAGA; DAISUKE AOKI
- Abstract
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.
- Subjects
METHYLATION; VAGINAL surgery; VAGINA abnormalities; GYNOPLASTY; MOLECULAR genetics
- Publication
Biomedical Reports, 2017, Vol 7, Issue 2, p123
- ISSN
2049-9434
- Publication type
Article
- DOI
10.3892/br.2017.929