FROM ISOLATION TO EMPOWERMENT: UNDERSTANDING EMOTIONAL AND SOCIAL TRANSITIONS IN MÜLLERIAN AGENESIS PATIENTS POST-RECONSTRUCTION

Abstract

Müllerian agenesis, commonly known as Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, is a rare congenital condition characterized by the absence of the upper two-thirds of the vagina and severe underdevelopment or absence of the uterus and cervix in individuals with a typical 46XX genotype. This syndrome is frequently accompanied by renal tract and skeletal system anomalies. Despite these structural abnormalities, affected individuals exhibit normal ovaries and secondary sexual characteristics. The prevalence of MRKH syndrome is estimated to be approximately 1 in 5,000 females. The etiology of MRKH syndrome remains unclear, with some studies suggesting a multifactorial basis involving polygenic factors. However, to date, no chromosomal abnormalities have been consistently associated with the syndrome, and it is generally considered to be of de novo origin. This article provides an overview of MRKH syndrome, its clinical features, associated anomalies, and current understanding of its genetic underpinnings.