EC Clinical and Medical Case Reports

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis of the uterus and upper vagina in women with a normal 46,XX karyotype. It often coexists with renal or skeletal malformations, but the isolated, or pure, form is rare.

Case Presentation: We report the case of a 22-year-old woman presenting with primary amenorrhea and normal secondary sexual characteristics. Pelvic MRI revealed complete uterine and upper vaginal agenesis, with normal ovaries and kidneys.

Conclusion: This case highlights the crucial role of MRI in diagnosing MRKH and differentiating the pure form from syndromic variants. Multidisciplinary care ensures accurate diagnosis, counseling, and appropriate reproductive management.

 Keywords: MRKH; Rokitansky Syndrome; Primary Amenorrhea; MRI; Uterine Agenesis

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