Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation

Abstract

Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia of the vagina with or without concurrent uterine and/or cervical aplasia. Type II (MURCS) is a rare form involving MUllerian agenesis, Renal agenesis, and Cervicothoracic Somite anomalies.

Case: A 17-yr-old virginal female presented for evaluation of primary amenorrhea and pelvic pain. Her medical history was significant for a bicuspid aortic valve and right radial dysplasia. She demonstrated normal secondary sexual development and a normal karyotype. Pelvic magnetic resonance imaging revealed an aplastic vaginal, no identifiable cervix or uterus, and normal ovaries. A laparoscopy was performed for the evaluation of pain and findings were significant for bilateral uterine horn and fallopian tube remnants noted along the pelvic sidewalls. This patient evaluation suggests a unique presentation of MURCS association.

Conclusion: To our knowledge, this is the first case of MRKH presenting with a bicuspid aortic valve and radial dysplasia. A review of the literature reveals no other cases of MRKH with these unique anomalies.