Mayer-Rokitansky-Kuster-Hauser Syndrome: Diagnosis with MR Imaging

Purpose To evaluate the diverse magnetic resonance (MR) imaging findings of the pelvis in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Materials and Methods This retrospective review had institutional review board approval with waiver of informed consent. Between 2001 and 2011, 215 female patients with MRKH syndrome attended clinics, and 66 underwent pelvic MR imaging (age range, 14–40 years; median age, 19 years). One reviewer reviewed MR images for presence, site, volumes, and differentiation into layers (myometrium, junctional zone, and endometrium) of uterine remnants. Ovarian volumes and positions were assessed. Vaginal length was measured. Results Rudimentary uteri were found in 61 patients (92%); 54 were bilateral, and seven were unilateral. All uterine buds were located laterally in the pelvis and had a constant caudal relationship with their paired ovary. Mean uterine volume was 6.4 mL (range, 0.4–80.2 mL), and 18 uteri had a volume greater than 10 mL. Twenty-four uterine buds (21%) showed differentiation into more than one layer. Two uteri contained intraluminal blood, and two showed signs of adenomyosis, indicating functioning endometrial tissue; these patients had cyclical pain. Bilateral ovaries were present in 54 patients; ovaries were ectopic in 27 patients. Twenty-two patients had no discernible vagina (dimple or less). Of the 44 patients with a vagina, the mean length was 2.0 cm (range, 1.0–6.5 cm). Conclusion Rudimentary uteri are common in patients with MRKH syndrome. They can be relatively large and have functioning endometrium, which can be associated with pain. Uteri have a constant caudal relationship to ovaries. Ovaries are commonly ectopic, and this must be recognized in patients undergoing fertility treatment. © RSNA, 2013 Online supplemental material is available for this article.