A Rare Case of Müllerian Agenesis With a Giant Tumor Arising From Uterine Remnants

Müllerian agenesis, also known as vaginal agenesis, Müllerian aplasia, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a rare developmental disorder affecting one in 5000 female births, resulting from an error in Müllerian duct fusion during fetal development.

We present a clinical case of a 46-year-old female patient, virgo intacta, with Müllerian agenesis and a leiomyoma arising from remnant uterine buds. The patient presented with primary amenorrhoea, continuous lower abdominal pain, and abdominal distension. We describe the diagnostic process and treatment strategy.

MRKH syndrome is the leading cause of vaginal agenesis, often accompanied by uterine and cervical aplasia. It is categorized into Type 1, which involves symmetric underdevelopment of the Müllerian ducts, and Type 2, characterized by asymmetric malformations of the genital tract and other congenital anomalies. Leiomyomas arising from remnant uterine tissue in MRKH patients are extremely rare. Accurate diagnosis and a carefully planned treatment strategy are essential for managing patients with MRKH syndrome complicated by rare tumors.

In this case, total tumor extirpation with bilateral adnexectomy was the preferred treatment, based on the patient's clinical presentation and diagnosis.