GYNAECOLOGY AND OBSTETRICS IMAGING
Year : 2006 | Volume
: 16 | Issue : 4 | Page : 805--807
Mayer- Rokitansky- Kuster- Hauser syndrome
KK Sen, A Kapoor
Radiodiagnosis and Imaging, INHF Ashwini Colaba, Mumbai - 400005, India
K K Sen
Senior Advisor, Radiodiagnosis and Imaging, INHF Ashwini Colaba, Mumbai - 400005
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Sen K K, Kapoor A. Mayer- Rokitansky- Kuster- Hauser syndrome.Indian J Radiol Imaging 2006;16:805-807
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Sen K K, Kapoor A. Mayer- Rokitansky- Kuster- Hauser syndrome. Indian J Radiol Imaging [serial online] 2006 [cited 2020 Feb 28 ];16:805-807
Available from: http://www.ijri.org/text.asp?2006/16/4/805/32353
Mayer- Rokitansky- Kuster- Hauser syndrome is characterized by vaginal atresia and a spectrum of uterine anomalies, including absence, hypoplasia, and duplication. Patients have a normal female karyotype, external genitalia, secondary sexual development and normal ovaries & Fallopian tubes. Renal anomalies, usually agenesis and rarely ectopia or hydronephrosis, occur in about 40% of patients. Skeletal abnormality co exists in about 10% of patients. Patients with arrested development of mullerian ducts most commonly present with primary amenorrhea.
A sixteen year old girl was referred for Ultrasound examination, with history of primary amenorrhea. Her secondary sexual characteristics were well developed and there was no cyclical abdominal pain. However the vagina was extremely rudimentary with just a dimple at the introitus.
On Sonographic examination of the Pelvis, the Uterus, cervix and the Vagina could not be visualized. Both ovaries also could not be identified. In addition crossed fused kidneys were seen located in the right lumbar region (Fig.1). The patient was further investigated with MRI Abdomen and Pelvis including MR Urography.
Serial axial, coronal and sagittal T1W, T2W, TRUFI and T2 FS images showed crossed fused malrotated ectopic kidney on the right with incomplete ascent of the kidneys (Fig.2-a,b&c). The left kidney was not seen in its renal fossa while the right kidney was seen to lie in the right lumbar region with cross fused ectopic left kidney lying infero-medially. There was duplication of the ureters of both the kidneys (Fig 2-d). However there was no evidence of hydroureteronephrosis in either kidney. The Ureters were seen to be short in length and were inserted ectopically to the bladder. The ureters from the upper moiety were seen to insert in the postero-superior surface of the bladder. The ureters from the lower moiety were seen to cross the midline and insert on the left. Bladder was seen to be distended and appears pear shaped.
The uterus and cervix could not be identified. The vaginal stripe was also not demonstrated (Fig.2-b). The left ovary was seen medial to the pelvic brim and right ovary was seen supero lateral to the kidney on the right. Both ovaries were normal in size with multiple small sub centimetric follicles within. MRI was later followed by radiographic examination of the spine which did not reveal any abnormality.
Fallopian tubes, uterus, cervix and upper three fourth of vagina develop from Mullerian ducts between 8th to 12th gestational week. Developmental defect occurring at this stage leads to agenesis of Mullerian structures. The development of kidneys, ureter, and bladder occurs concomitantly at 6th-12th week. Hence renal anomalies, such as renal agenesis, ectopic kidney, fused kidney, renal hypoplasia, and horseshoe kidney are seen in 30 - 40 % of patients of Mayer Rokitansky Kuster Hauser syndrome (MRKH). Vertebral abnormalities are also found in 10 % of patients. Other rare associations are cardiac anomalies and anorectal malformations.
MRKH has psychological consequences, but its physiological defects are surgically treatable. Surgical correction permits normal sexual function and, possibly, reproduction with assisted techniques.
The patient may present with primary amenorrhea and cyclic abdominal pain. Because ovarian function is normal the patient undergoes puberty with normal thelarche and adrenarche; however, menses do not begin. Patients who do not undergo evaluation for primary amenorrhea often seek clinical attention for infertility. Although the ovaries function normally, the fallopian tubes may be closed, and the uterus is often anomalous. The patient may present with inability to have intercourse. The degree of vaginal aplasia can vary from complete absence to a blind pouch. The more shallow the canal, the greater the likelihood of the patient having dyspareunia. Further investigations may reveal renal malformations like absence or ectopia of the kidneys. Some patients may present with a history of voiding difficulties or recurrent urinary tract infections and the genital anomalies may be discovered while investigating the urinary system.
Chromosomal analysis is essential to exclude karyotypic abnormalities of the X chromosome (eg, Turner syndrome).Other chromosomal aberrations may include a 46, XY karyotype, suggesting a form of androgen insensitivity syndrome (AIS). Normal circulating levels of human chorionic gonadotropin (hCG), luteinizing hormone (LH), and follicle-stimulating hormone (FSH) indicate appropriate ovarian function.
Sonography is an easily accessible, noninvasive imaging modality for MRKH as it requires no radiation and is inexpensive. It easily depicts the upper level of the vagina and the length of its obstruction. It can also be used to identify uterine duplications and tubal obstruction. Simultaneously it allows assessment of the kidneys and bladder for abnormalities and visualization of some vertebral anomalies.
Magnetic resonance imaging with its multi planer capability undoubtedly provides excellent images of superficial and deep tissue planes. It can clarify "inconclusive" sonography results concerning 'cavitation' of the uterus, presence of a cervix and it improves assessment of sub peritoneal structures.
The role of MRI in these patients is to depict the pelvic anatomy and to identify abnormally developed or positioned gonads. MRU has high accuracy in demonstrating the cause, level and degree of obstruction along with features of hydro-ureteronephrosis. Conventional Pyelography can help in assessing the renal functional component besides demonstrating the pelvi-calyceal system and the ureters. Spinal radiography should be done to exclude vertebral anomalies. Laparoscopy is useful in confirmation and classification of MRKH and helps in planning the definitive reconstructive surgery.
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