Dataset Information

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Kuster-Hauser syndrome.

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.

SUBMITTER: Watanabe K

PROVIDER: S-EPMC5526143 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.

Watanabe Keiko K Kobayashi Yusuke Y Banno Kouji K Matoba Yusuke Y Kunitomi Haruko H Nakamura Kanako K Adachi Masataka M Umene Kiyoko K Kisu Iori I Tominaga Eiichiro E Aoki Daisuke D

Biomedical reports 20170621 2

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 (<i>Wnt4</i>) 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 (<i>LHX1</i>), HNF1 homeobox B ...[more]

PMID: 28804623

Similar Datasets

Project description:BACKGROUND:Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). MAIN BODY:The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. CONCLUSION:Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.

Dataset Information

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Kuster-Hauser syndrome.

Publications

Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets