Undiagnosed Müllerian Aplasia in a 64-Year-Old-Woman With Primary Amenorrhea [67]

INTRODUCTION: Disorders of dysgenesis of the female reproductive tract are rare. There are a wide variety of malformations, including agenesis and vertical and lateral fusion defects with presence or absence of resorption and canalization. Their sequelae range from infertility, dyspareunia, bleeding disorders, and concomitant endometriosis to chronic pain. Most cases present during adolescence when menarche fails to occur. CASE: A 64-year-old woman presented with chronic pelvic pain, primary amenorrhea, and lifelong dyspareunia. On physical examination, she had a narrowed, 5-cm distal vagina and no visible or palpable cervix. Ultrasound imaging showed a uterus measuring 12×6 cm, ovaries not seen, and an anterior fundal leiomyoma. On exploratory laparotomy, extensive abdominal and pelvic adhesions were encountered. These were likely secondary to years of retrograde bleeding from the two unfused rudimentary uterine horns on the pelvic sidewalls. The right horn was 2.5 cm. The 6-cm left horn had a hard mass within. On dissection, it was a leiomyoma. Both horns lacked cervices. No proximal vagina was apparent. Bilateral uterine horns and adnexae were excised. The patient's pain resolved postoperatively. CONCLUSION: The protean manifestations of Müllerian dysgenesis clinically and the confusion that coexisting pathology such as uterine leiomyomas can create can lead to diagnostic dilemmas. This unusual case illustrates the importance of always evaluating the etiology of primary amenorrhea and understanding the embryologic basis for dysgenesis disorders of the female reproductive tract.