Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition marked by the absence or underdevelopment of the uterus and upper vagina in women with normal karyotype (46, XX) and secondary sexual characteristics. This article presents a case of a young patient diagnosed with MRKH syndrome, detailing clinical presentation, diagnostic approach, and therapeutic interventions. An extensive review of the literature provides insights into genetic factors, phenotypic variability, and the psychosocial challenges faced by affected individuals. Understanding the syndrome’s genetic underpinnings and its impact on patients’ quality of life is crucial to enhancing management and patient counseling.
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