MAYER-ROKITANSKY-KÜSTER-HAUSER (MRKH) SYNDROME IN GIRLS – DIAGNOSIS, TREATMENT AND PSYCHOSOCIAL ASPECTS

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome  is a rare congenital disorder characterized by agenesis or aplasia of the uterus and the upper part of the vagina in otherwise chromosomally and hormonally normal females (46,XX). It affects approximately 1 in 4500–5000 live female births and represents one of the most common causes of primary amenorrhea. Genetic and environmental factors are the main cause of the syndrome, although the pathogenesis is multifactorial. Diagnostics include both imaging tests (such as ultrasound or magnetic resonance imaging) and genetic tests. Therapeutic management is aimed at forming a functional neovagina that allows for comfortable sexual intercourse, achieved through either non-surgical dilation techniques or surgical vaginoplasty, selected according to the patient’s preferences and existing indications or contraindications to a given type of procedure. Available reproductive approaches, including uterine transplantation, surrogacy, and adoption, provide women with MRKH syndrome the possibility of achieving motherhood. Psychological assistance is essential, since the diagnosis has a significant impact on a woman’s self-esteem, perception of her body, and sense of sexual identity. Multidisciplinary care including medical, surgical, and psychological interventions is vital to achieving the best therapeutic outcomes and enhancing the quality of life of patients with MRKH syndrome.