TITLE:
Mayer-Rokitansky-Küster-Hauser Syndrome: A Comprehensive Case Report and Review of Clinical, Genetic, and Psychosocial Aspects
AUTHORS:
José Saturnino de Albuquerque Segundo, Rodolfo Ebert de Oliveira Garcia, Evisa Christal Oliveira de Paula Cruz, Rafael de Oliveira Sousa, Antonio Victor Gouveia Azevedo dos Santos, Thaisa Maria da Silva Sousa, Franciane Melo Meireles, Lyvia Gonçalo da Silva, Daniel Gurgel Fernandes Távora, Francisco Barbosa de Araújo Neto
KEYWORDS:
Rokitansky Syndrome, Müllerian Agenesis, Primary Amenorrhea
JOURNAL NAME:
Open Journal of Medical Imaging,
Vol.16 No.1,
February
3,
2026
ABSTRACT: 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.