Mayer-Rokitansky-Küster-Hauser syndrome - a review based on recent advances in medicine

Abstract

Introduction Meyer-Rokitanski-Küster-Hauser syndrome, also reffered to as Müllerian aplasia, is a congenital disorder characterized by agenesis or hypoplasia of the uterus and upper part of the vagina in female with normal female karyotype (46,XX). In these women the external genitalia have a normal structure and their internal endocrine organs function properly. Most often, this syndrome is diagnosed in adolescence due to primary amenorrhea. Material and methods This review was based on available data collected in the PubMed data base and Google Scholar data and published between 2011 and 2021. The research was done by looking through keywords such as:“Mayer-Rokitansky-Küster-Hauser syndrome”, “MRKH syndrome”, “uterine agenesis” and “primary amenorrhea”, "vaginal agenesis", "uterus transplantation". Conclusions Recent scientific achievements have shown how much can be changed in the lives of patients with MRKH syndrome. It should be remembered that this is a disease that needs treatment by specialists in many fields. Treatment should include not only medical side of problem but also should take care of psychical side of patients life. During the last 10 years several advances have been made in MRKH syndrome research, especially within the fields of genetics, non-surgical management, and uterus transplantation as the first available fertility treatment.

Keywords

• MRKH syndrome
• uterine agenesis
• acetonemic syndrome
• primary amenorrhea
• vaginal agenesis
• uterus transplantation