A Challenging Diagnosis - Large Leiomyomas on Rudimentary Uterus in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome

A 40-year-old woman diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome at 16 years of age presented with a large abdominal mass protruding to the right subcostal margin, equivalent to 30 weeks gestation. She didn’t have comorbidities of hypertension or diabetes. The vitals were normal with BMI 30. She was asymptomatic except for occasional vague abdominal discomfort. Further imaging studies were conducted to assess the extent and nature of the findings. Pelvic and transvaginal ultrasound demonstrated the presence of multiple large fibroids extending beyond the level of the umbilicus. This was corroborated by pelvic MRI, which further confirmed the massively enlarged multi-fibroid uterus. Additionally, intravenous contrast-enhanced imaging revealed large bilateral ovarian collaterals and prominent blood vessels extending to the broad ligament. Triple-phase CT angiogram of the abdomen/pelvis with pre-contrast revealed an 8mm aneurysm on the anterior aspect of the abdominal aorta and unusual vascular anatomy, raising the possibility of an atypical or neoplastic process in the right iliac fossa. In view of these findings, an opinion by an Oncologist was sought, who suspected the possible presence of an abnormal nidus of vessels and a fluid attenuation area in the right iliac fossa. Additionally, the Risk of Ovarian Malignancy Algorithm (ROMA) test was performed, revealing a slightly elevated value. To reach the final diagnosis, the decision for the exploratory laparotomy was undertaken. Intraoperative findings revealed the presence of a rudimentary uterus with normal ovaries (Figure 1 and Figure 2), as well as the presence of bilateral broad fibroids (Figure 3). The broad ligament areas around the uterus were occupied with large circumscribed masses, identified as fibroids. The right-side fibroid measuring 17 x 15cm (Figure 4) and the left-side fibroid measuring 10 x 10cm (Figure 5) were excised, respectively, while preserving the left ovary and rudimentary uterus. Peritoneal fluid samples were obtained to ascertain the nature of malignancy. No evidence of infiltration or adhesions was detected. Postoperatively, the patient experienced no complications. Histological examination of the masses growing from bilateral uterine remnants confirmed the presence of leiomyomas, with no glandular epithelium identified. Peritoneal fluid analysis revealed the absence of malignant cells.