Figure 1: Sagittal image demonstrates a bladder and rectum. However, a normal uterus and cervix are not identified. The vagina is also not well visualized, possibly indicative of hypoplasia.

Figure 2: The axial image demonstrates a left ovary measuring 4 x 2.4 cm in size. The right ovary, not seen in this image, measured 3 x 1 x 1.9 cm in size. Both ovaries appeared normal. The left ovary contains a dominant follicle.

Bilateral adnexal masses (*) are present, measuring approximately 2 cm each in size. They demonstrate zonal anatomy similar to that of uterus, with myometrium surrounding the central cavity lined by junctional zone. This is indicative of unfused rudimentary uteri (*). The kidneys, although not shown in these images, were normal in size and location.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome, or Müllerian agenesis, is a subtype of uterine agenesis, resulting from the failure of development of the Müllerian (paramesonephric) duct system in genotypic females. Around the fifth week of gestation, the Müllerian ducts normally fuse to create a uterus, cervix and upper two-third of the vagina. The ovaries and lower one-third of the vagina have separate ectodermal embryologic development and develop normally. Anomalous Müllerian development results in a variety of abnormalities, most commonly agenesis of the uterus and cervix and vaginal atresia. Other embryological anomalies that can accompany MRKH include renal anomalies (15-40% of cases: renal agenesis or ectopia), and skeletal abnormalities (12% of cases: especially of the vertebral bodies).

Although MRKH is a congenital disorder, it is commonly not diagnosed until puberty. Patients are genetic and phenotypic females and have normal ovarian and secondary sexual characteristic development. They typically present with primary amenorrhea and cyclic abdominal pain. Other clinical presentations include inability to have intercourse, infertility, and voiding difficulties or recurrent urinary tract infections secondary to renal anomalies. MRKH is a common cause of primary amenorrhea, accounting for as many as 15% of cases. Although there are several surgical approaches to correct vaginal atresia to allow for normal sexual function, patients have no reproductive potential aside from medical intervention in the form of in-vitro fertilization of harvested ova and implantation in a host uterus.

MRKH syndrome can be accurately depicted on MR images. In these patients, absence or anomalies of the uterus and upper vagina, with varying degrees of development of the lower vagina, is reliably detected on a combination of sagittal and axial images. Normal ovaries are usually present. Uterine hypoplasia is diagnosed when the uterus is small, the endometrium is atrophic, and the myometrium is of lower than normal signal intensity.

References:

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3. Fedele L, Dorta M, Brioschi D, Giudici MN, Candiani GB. Magnetic Resonance Imaging in Mayer-Rokitansky-Kuster-Hauser Syndrome. Obstetric Gynecololgy. 1990 Oct; 76(4): 593-6.
4. Carter SM, Gross SJ. Mayer-Rokitansky Syndrome. eMedicine, 2003.