MDCT findings in a case of Mayer-Rokitansky-Kuster-Hauser syndrome

Clinical History

A patient with a history of amenorrhea, cyclic abdominal pain and dyspareunia, underwent an abdominal US examination (not reported), which revealed a right ectopic kidney and the non-visualization of the contralateral one. The uterus and the ovaries were not visualized.

Imaging Findings

She underwent Multi Detector Computed Tomography (MDCT) angiography to confirm the renal agenesia, the position of the ovaries and the uterus. CT scan was performed using a 16-row multi detector scanner (LightSpeed Plus 16 slice CT scanner, General Electric Company, Milwakee, WI, USA) with the following parameters: cranio caudal acquisition, collimation 3.75 mm, table increase 27.50 mm, tube voltage 120 kV, tube current 360 mA, tube rotation time 800 ms, 120 ml of low molecular weight non-ionic iodinated (350 mg I/ml) contrast agent, injected intravenously at 3 ml/s, followed by a 50 ml saline chaser bolus, via a catheter placed in the cubital vein; imaging acquisition was obtained before and after contrast medium injection. The images were then reconstructed with a 1.25 mm slice collimation. The study revealed: right sided aorta; agenesia of the uterus; bilateral ovarian ectopy; an ectopic fused kidney bigger than normal in the right side of pelvic floor vascularized by a left renal artery growing from the left iliac artery; abnormal renal veins and unilaterel right ureter. MDCT imaging, in sagittal and coronal views, was useful to show the relationship between the abnormal anatomic structures (atrophic remnants of the Müllerian duct, fallopian tubes, vagina, and uterus), and axial images revealed the relationship of these structures to the adjacent pelvic organs (bladder, anus and rectum).

Discussion

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is characterized by Müllerian duct structures agenesia, in genetically, phenotypically and developmentally normal (46-XX) females [1-4]. The incidence of MRKH is one in 4,000 to 5,000 females [5]. The anomalies in female genital tract vary from vaginal atresia to total Müllerian agenesia. Fallopian tubes, uterus, cervix and upper ¾ of vagina develop from Müllerian ducts between the 8th to 12th gestational week. Developmental defect occurring at this stage leads to agenesis of Müllerian structures [1]. The development of kidneys, ureter, and bladder occurs concomitantly at 6th-12th week of gestation. Hence renal anomalies, such as renal agenesia, ectopic kidney, fused kidney, renal hypoplasia, and horseshoe kidney are seen in 30 -40 % of MRKH patients [1-7]. Vertebral abnormalities are also found in 10 % of patients [6,7]. Other rare associations are cardiac anomalies, anorectal malformations and ectopic policystic ovaries [8]. Amongst anorectal malformations Müllerian duct agenesia is frequently found with common cloacal anomaly. Primary amenorrhea in an adolescent girl is the commonest presentation. Perineal examination is the most important diagnostic test. It shows either absent vagina or a shallow and blind vaginal pouch, the part of vagina which develops from ectoderm. Every diagnosed patient of MRKH must undergo thorough investigations for classification of the syndrome and associated anomalies. Ultrasonography (USG) of kidney-urinary-bladder (KUB) region and pelvis, intravenous pyelography (IVP) and micturating cystourethrography (MCU), if required, are helpful in diagnosing renal anomalies. Laproscopy is useful in confirmation and classification of MRKH and helps in planning the definitive reconstructive surgery. The routine gynecological examinations are still warranted, as these patients are at risk of malignant involvement of the residual Müllerian tissues. Therefore, an evaluation of the abdomino-pelvic organs is warranted. Even if magnetic resonance (MRI) [9] could be easy and safe to investigate pelvic structures, in this case, MDCT Angiography was determinant in the concomitant evaluation of a complex pelvic anatomy and suggestive of MRKH. Multi planar reformation (MPR) and 3D volume rendering (3D-VR) images were helpful in the visualization of both gynecological organs and abdominal visceral parenchyma.

Differential Diagnosis List

Final Diagnosis

Mayer-Rokitansky-Kuster-Hauser syndrome

URL:	https://www.eurorad.org/case/6506
DOI:	10.1594/EURORAD/CASE.6506
ISSN:	1563-4086