Psychopathology in women with Mayer-Rokitansky-Küster-Hauser syndrome

Czech version

Authors: Aneta Kultová
Authors‘ workplace: Psychosomatická klinika s. r. o., Praha
Published in: Čes. a slov. Psychiat., 121, 2025, No. 6, pp. 263-267.
Category: Review
doi: https://doi.org/10.48095/cccsp202516

Overview

The aim of this review article is to present psychiatric difficulties that may be associated with the most severe form of congenital malformations of the female reproductive tract, agenesis of the uterus and vagina, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Due to its rarity, MRKH syndrome is classified as a rare disease and the issue of congenital developmental anomalies is complex. Therefore, it is important not to underestimate the potential impact on mental health. In the introduction, the author describes MRKH syndrome, including its clinical presentation, developmental aspects, and partly its genetic background. The article then focuses on psychiatric symptoms. According to most published studies, women diagnosed with MRKH syndrome are at increased risk for developing psychiatric disorders. The article further outlines three specific areas of mental health difficulties. The author first concentrates on anxiety disorders. Attention is also given to anxiety symptoms specific to the experience of MRKH. Studies reveal a significant psychological burden and a higher rate of anxiety-related difficulties among women with MRKH syndrome compared to a control group of healthy women. The next area of concern is depressive disorders. Here, a dual risk is identified for the development of depression. The first risk arises at the time of diagnosis, while the second is related to the chronic nature of the congenital condition. The final area of psychopathology discussed in the article includes psychotic disorders. Rare cases are mentioned in which women with MRKH syndrome simultaneously suffered from acute psychotic episodes or schizophrenia. Some studies suggest a possible genetic link between MRKH syndrome and a predisposition to psychotic disorders. In conclusion, the article emphasizes the importance of interdisciplinary cooperation and the potential creation of a multidisciplinary team caring for these patients. The limited number of studies is likely due to the rare nature of the condition. The aim of the article is to increase professional awareness of the psychiatric aspects of MRKH syndrome and to promote a multidisciplinary approach treating the affected women.

Keywords:

Anxiety disorders – depressive disorders – MRKH syndrome – psychotic disorders – congenital malformations of the reproductive tract

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MUDr. Aneta Kultová

Psychosomatická klinika s. r. o.

Patočkova 712/3

169 00 Praha 6

e-mail: kultova@psychosomatika.cz