WOFAPS 2025 8th World Congress of Pediatric Surgery

Uma Mahajan, Marla Sacks, Carlos Reck, Varag Abed, Harry Zinn, Francisca Velcek

SUNY Downstate Health Sciences University

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a reproductive tract malformation occurring in 1 out of every 5,000 female births. It is primarily characterized by congenital agenesis or marked hypoplasia of the structures that are derived from the Mullerian ducts, including the vagina, cervix, uterus, and fallopian tubes. 3% of MRKH patients have a functioning uterus.

Case Presentation: A 12-year-old premenarchal female with no significant past medical history, born full term with no gross physical abnormalities, presented to our emergency department with one week duration of severe right lower quadrant pain. This episode was preceded by similar cyclic right lower quadrant abdominal pain for several months. She was found to have MRKH syndrome with a right-sided functioning uterus and hematometra and ipsilateral hematosalpinx. She subsequently underwent diagnostic cystoscopy, vaginoscopy, and pelvic laparoscopy. A laparoscopic puncture of the uterus was performed, followed by placement of a drain catheter and uterine fixation to the anterior abdominal wall to relieve the hematometra and hematosalpinx. Post-operatively, the patient experienced complete resolution of symptoms. A follow up CT scan two weeks later demonstrated resolution of the hematometra and significant improvement in the hematosalpinx.

Conclusion: In premenarchal female patients presenting with cyclic abdominal pain and amenorrhea, MRKH syndrome with a functioning uterus should be considered. In our patient, laparoscopic uterine drain placement resulted in the resolution of clinical symptoms and radiographic findings. A high index of suspicion for MRKH syndrome in a premenstrual female presenting with cyclic abdominal pain and amenorrhea can lead to prompt diagnostic management and surgical intervention.