GYNAECOLOGY AND OBSTETRICS IMAGING
Year : 2006 | Volume
: 16 | Issue : 4 | Page : 809--812
Atypical Mayer-Rokitansky-Kuster-Hauser syndrome with scoliosis, renal & anorectal malformation - case report
S Sharma, N Aggarwal, S Kumar, A Negi, JR Azad, S Sood
1007, Basant vihar, Kasumpti, Shimla- 171009, Himachal Pradesh, India
1007, Basant vihar, Kasumpti, Shimla- 171009, Himachal Pradesh
|How to cite this article:|
Sharma S, Aggarwal N, Kumar S, Negi A, Azad J R, Sood S. Atypical Mayer-Rokitansky-Kuster-Hauser syndrome with scoliosis, renal & anorectal malformation - case report.Indian J Radiol Imaging 2006;16:809-812
|How to cite this URL:|
Sharma S, Aggarwal N, Kumar S, Negi A, Azad J R, Sood S. Atypical Mayer-Rokitansky-Kuster-Hauser syndrome with scoliosis, renal & anorectal malformation - case report. Indian J Radiol Imaging [serial online] 2006 [cited 2019 Jul 21 ];16:809-812
Available from: http://www.ijri.org/text.asp?2006/16/4/809/32354
Congenital absence of uterus and vagina, Mayer-Rokitansaky-Kustner-Hauser (MRKH) syndrome, is a rare developmental failure of in part or whole of the Mullerian duct. The prevalence has been reported as 1 in 4000-5000 female births . Mullerian agenesis causes approximately 15% of primary amenorrhea . Patients with MRKH syndrome have a 46, XX karyotype and normal secondary sexual characteristics. The external genitalia appear normal, but only a shallow vaginal pouch is present. Ovarian function is normal .
The syndrome was described by Meyer in 1829 and Rokitansky in 1838 as including agenesis of the uterus and vagina due to abnormal development of the Mullerian ducts. Rokitansky reported uterine and vaginal agenesis, and Meyer described various vaginal duplications. In 1910, Kuster recognized urologic associations, such as renal ectopy or agenesis, along with skeletal abnormalities . In 1961, Hauser distinguished MRKH from testicular feminization. Other rare associations are cardiac anamolies and anorectal malformations . Here we are reporting a case having association of Mayer-Rokitansky-Kuster-Hauser syndrome with anorectal malformation, renal and skeletal anamolies.
13 years old female patient presented with primary ammenorrhoea. Her general examination was normal. The perineal examination showed normal external genitalia and normally placed urethral opening but the normal vaginal opening was absent. Patient had ectopic anal opening at birth which was repositioned by surgery at the age of one year and related previous temporary colostomy scar was seen in left iliac fossa. The diagnosis of the associated uterovaginal anomaly was missed initially and was only diagnosed later at the age of puberty while investigating for primary ammenorrhoea.
The plain film of abdomen showed scoliotic deformity with block vertebra and hemi lumbar vertebrae and absence of distal sacral & coccygeal segments. Intravenous pyelography revealed non-excreting left kidney with abnormally small collecting system in the form of only two major dilated calyces in right kidney [Figure 1]. Ultrasound examination showed normally located bilateral kidneys with abnormally small pelvi-calyceal system with disproportionate thick renal parenchyma. Both ovaries were normal and uterus was not visualized.
On MRI, no identifiable uterine tissue and vagina could be visualized in sagittal planes [Figue 2]. On axial plane no vaginal tissue could be identified between the rectum and urethra [Figure 3]. MR imaging also clearly showed marked scoliosis and vertebral anamolies with normally placed kidneys with thick parenchyma and abnormally small pelvi calyceal system [Figure 4].
The most basic classification of Mullerian duct defects consists of agenesis and hypoplasia, defects of vertical fusion and defects of lateral fusion.
In the patients with MRKH syndrome, the presence of vaginal agenesis or hypoplasia with intact ovaries and fallopian tubes is accompanied by variable anamolies of the uterus, urinary tract and skeletal system . It results in complete vaginal agenesis, with 90% of cases associated with uterine agenesis. In apparently 10% of affected women, isolated vaginal agenesis may occur with an obstructed or small rudimentary uterus as a result of failure of development of uterovaginal bulb. Strubble et al, recognizing additional anamolies, designated typical or atypical forms of the syndrome as type A & type B . The patients with type A have symmetric muscular buds and normal fallopian tubes; patients with type B have asymmetric muscular buds or abnormally developed fallopian tubes. The atypical form type B MRKH patients also have additional renal deformities consisting of renal agenesis, ectopic kidneys, renal hypoplasia, horse-shoe kidney, contralateral ectopic kidney and abnormal collecting system . All patients with associated ovarian abnormalities have type B MRKH syndrome . Rarely MRKH can be associated with anorectal malformation. Amongst anorectal malformation, MRKH is associated with common cloacal anomaly. Association of MRKH and anorectal malformation has some important surgical considerations .
Among patients with type B MRKH syndrome, 10% have been shown to have skeletal abnormalities which are seen only in patients with atypical form . These skeletal anamolies includes vertebral anamolies such as scoliosis, wedge shaped vertebrae, Klippel-Feil anamolies and abnormalities of extremities. Patients with Klippel-Feil anomaly associated with MRKH can also have renal agenesis or ectopy. The combination of abnormalities is classified as "MURCS syndrome" - Mullerial duct aplasia, renal agenesis/ectopia and Cervical Somites dysplasia .
The etiology of MRKH syndrome is unknown but it is believed that embryological development is interrupted during the sixth or seventh week of gestation . Since the mesonephros (which give rise to kidneys), the mullerian ducts, and the skeleton all originate from the mesoderm, it is believed that a deleterious event occurs during this phase of gestation, giving rise to the abnormalities seen in the MRKH syndrome.
Diagnosis of the MRKH syndrome patients is usually delayed until adolescence. Primary ammenorrhoea is the reason that leads the patients to the clinicians. Symptoms at presentation depend on the presence or absence of functioning endometrium. Complete agenesis or hypoplasia without functioning endometrium manifests in puberty with primary ammenorrhoea. Primary ammenorrhoea with severe cyclical pain may reflect isolated vaginal agenesis with a uterus that contains functional endometrium that is secondarily obstructed resulting in hematometra. In general little or no reproductive potential is left for patients with agenesis / hypoplasia and the presence of functional endometrium.
Hyserosalpingography (HSG) has no role in the evaluation of mullerian agenesis and hypoplasia. On USG images, a normal uterus can not be identified. The ovaries are normally situated. USG is the first modality chosen in the evaluation for these anamolies. However evaluation of the uterine remnant may be difficult and is precluded by the acoustic window and peristalising bowel loops draped into the pelvis. USG & MRI are, therefore often complimentary.
Magnetic Resonance (MR) has a reported accuracy of up to 100% in the evaluation of mullerian duct anamolies, MR imaging provides clear delineation of internal and external uterine anatomy in multiple imaging planes and most important, reliable definition of external uterine contour. Complex anamolies and secondary diagnoses such as endometriosis can often be optimally characterized non-invasively.
On MRI, the role of imaging is to provide a detailed map of the pelvic anatomy, including the presence and extent of the anamolies to allow for the detailed survey of the pelvic structures. MR imaging should be performed with a thin section, section thickness not exceeding 5 mm. On MRI, uterine agenesis and hypoplasia are best characterized on sagittal images, while vaginal agenesis is best demonstrated in axial images. Mullerian agenesis results in no identifiable uterus. Uterine hypoplasia demonstrates abnormally low signal intensity myometrium on T2W-images and poorly delineated zonal anatomy. Zonal anatomy is the differentiation between the high signal intensity endometrium, the low signal intensity junctional zone (inner myometrium) and the intermediate intensity outer myometrium as depicted on T2W images. A hypoplastic uterus is diagnosed on the basis of small size and reduced intercornual distance <2 cm . The endometrial cavity and the myometrium are reduced in size. An endometrial segment may demonstrate increased signal intensity and be expanded depending on presence of obstruction. Vaginal agenesis is best charecterised on axial plane with no normal vaginal anatomy identified between the rectum and urethra.
Congenital uterine anamolies are clinically important, especially in women who present with anorectal malformation in neonatal period or with primary ammenorrhoea at puberty. Therefore it is mandatory to perform a meticulous inspection of the perineum in female patients with anorectal malformation to detect unusual defects. Precise imaging characterization is essential, given the different clinical manifestations, and the treatment regimens or thorough gynecological and radiological examination is important for the correct diagnosis and surgery planning of MRKH patients. USG findings lead the correct diagnosis. MR imaging is currently the study of choice because of its high accuracy and detailed elaboration of utero-vaginal, skeletal, renal and ovarian anatomy. It also provides excellent soft tissue differentiation and multiplanar imaging capability. For the correct surgery, MR imaging has taken the place of laproscopy.
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