Syndrome Mayer-Rokitansky-Küster-Hauser – uterine and vaginal agenesis: current knowledge and therapeutic options

Czech version

Authors: R. Chmel jr.; Z. Pastor; M. Mužík; Tomáš Brtnický; M. Nováčková
Authors‘ workplace: Gynekologicko-porodnická klinika 2. LF UK a FN Motol, Praha, přednosta MUDr. R. Chmel, Ph. D., MHA
Published in: Ceska Gynekol 2019; 84(5): 386-392
Category:

Overview

Objective: Evaluation of existing knowledge of etiopathogenesis, clinical manifestations and treatment options to increase quality of life in women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).

Design: Review article.

Setting: Department of Obstetrics and Gynaecology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague.

Methods: Literature search using the Web of Science, Google Scholar and Medline databases with keywords (absolute uterine infertility factor, AUFI, Mayer-Rokitansky-Küster-Hauser syndrome, MRKH, uterine transplantation) and analysis of articles published in impact and reviewed journals.

Results: MRKH syndrome is defined as congenital agenesis of the upper two-thirds of vagina and uterus in women with normal secondary sexual characteristics and female karyotype (46, XX). The incidence of the syndrome is 1 : 4500 births of female sex children. It is the second most common cause of primary amenorrhea. Recent research has focused on elucidating the genetic origin of the disease, focusing on the research of candidate genes that could be participating in the genesis of Müllerian ducts and their derivatives.

Conclusion: MRKH syndrome now appears as a multifactorial congenital developmental defect based on a combination of genetic predisposition and environmental factors. Modern medicine can help girls with MRKH syndrome to a quality sexual life. It is also able to offer different possibilities of achieving motherhood. In the future, however, further research is needed, in particular on the etiology and pathogenesis of this syndrome to detect a possible genetic basis of the disease.

Keywords:

absolute uterine factor infertility – AUFI – Mayer-Rokitansky-Küster-Hauser syndrome – MRKH – uterus transplantation

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