|Year : 2019 | Volume
| Issue : 4 | Page : 250-251
Complete Müllerian agenesis, renal agenesis, and renal ectopia: MURCS association – A rare cause of primary amenorrhea
Reddy Ravikanth1, Pooja Majumdar2
1 Department of Radiology, Holy Family Hospital, Thodupuzha, Kerala, India
2 Department of Medicine, INHS Kalyani, Visakhapatnam, Andhra Pradesh, India
|Date of Submission||12-Sep-2019|
|Date of Acceptance||09-Oct-2019|
|Date of Web Publication||12-Dec-2019|
Department of Radiology, Holy Family Hospital, Thodupuzha - 685 605, Kerala
Source of Support: None, Conflict of Interest: None
Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia (MURCS) association is a rare and unusual constellation of nonrandom findings that include Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. The agenesis of the Müllerian duct is the second-most common cause of primary amenorrhea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies, and short stature. Here, we report a 32-year-old female with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association).
Keywords: Complete Müllerian agenesis, Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia, renal agenesis, renal ectopia
|How to cite this article:|
Ravikanth R, Majumdar P. Complete Müllerian agenesis, renal agenesis, and renal ectopia: MURCS association – A rare cause of primary amenorrhea. Apollo Med 2019;16:250-1
|How to cite this URL:|
Ravikanth R, Majumdar P. Complete Müllerian agenesis, renal agenesis, and renal ectopia: MURCS association – A rare cause of primary amenorrhea. Apollo Med [serial online] 2019 [cited 2020 Apr 3];16:250-1. Available from: http://www.apollomedicine.org/text.asp?2019/16/4/250/272823
| Introduction|| |
Turner syndrome is the most common cause of primary amenorrhea followed by Müllerian duct agenesis. The causes of primary amenorrhea with well-developed secondary sexual characters are few such as Mayer–Rokitansky–Küster–Hauser (MRKH), Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia (MURCS) association, VACTERL, and Goldenhar syndrome. The developmental failure of Müllerian duct structures sometimes associates with the urinary tract and skeletal abnormalities. MURCS association is a rare developmental disorder with four common malformations specifically described as uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies, and short stature (<152 cm). Here, we report a 32-year-old female with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association).
| Case Report|| |
A 32-year-old female patient presented with complaints of pelvic pain lasting for 3 days. A history of not attaining menarche was also elicited from the patient, and ultrasonography demonstrated absent kidneys in the bilateral renal fossa. However, the left ectopic kidney was visualized posterior to the bladder and anterior to the rectum in the pelvis which is the normal location of the uterus. Ultrasonography also demonstrated absent uterus and ovaries [Figure 1]. Physical examination revealed short neck, scoliosis, and short stature.
|Figure 1: Transverse ultrasonography image demonstrating ectopic location of the left kidney (green star) in the pelvis immediately posterior to the bladder (red star) and anterior to the rectum (yellow star). Note complete Mullerian agenesis in a 32-year-old female with MURCS association|
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| Discussion|| |
Renal agenesis or hypoplasia in association with vaginal atresia and middle ear ossicular anomalies were described by Winter et al. Renal agenesis may present in isolation or might have a syndromic association with multiple other anomalies. MURCS association is a syndrome with skeletal defects. About 88% of patients with MURCS demonstrate renal agenesis and/or renal ectopia. Abnormal fusion, formation, or reabsorption of the Müllerian ducts during fetal life result in congenital malformations of the female urogenital tract, which may be partial or complete. Renal tract anomalies are likely to be associated with Müllerian duct malformations in women due to the embryologic relationship that exists during the development of urogenital system. The prevalence of Müllerian duct anomalies, including trivial uterine defects, was 9.8% in a general population-based study and 6.7% in a review of unselected populations.
The closest differential diagnoses of MURCS association are Goldenhar syndrome, VACTERL association, and Turner syndrome. Goldenhar syndrome is characterized by the abnormal congenital development of the mandible, nose, lip, soft palate, and ear. Urogenital abnormalities are rare in Goldenhar syndrome. VACTERL anomaly is characterized by vertebral defects, limb abnormalities, renal anomalies, anal atresia, tracheoesophageal fistula, and cardiac defects. It is rarely associated with genital malformation, and vertebral anomalies are more common in the caudal region. Turner syndrome is associated with primary ovarian failure and undeveloped secondary sexual characters.
The American Fertility Society (AFS) has classified Müllerian duct anomalies into seven major categories. Universal acceptance of the AFS classification facilitates uniform reporting of Müllerian duct anomalies. Kidneys and lower urinary tract malformations constitute congenital renal tract anomalies and are generally asymptomatic, which are detected incidentally during routine imaging in healthy adults. A duplex collecting system is found in 0.7% of the adult population, and the absence of one kidney has been reported as 1/1000 individuals  which are among the most common congenital renal tract abnormalities. The high incidence of renal tract anomalies in the range of 30%–41% was detected in women with specific Müllerian duct malformations such as uterine agenesis and unicornuate uterus. The most common urologic anomaly associated with obstructive uterovaginal anomalies is the congenital absence of one kidney.
| Conclusion|| |
The early detection of a congenital solitary kidney by incidental imaging studies or routine ultrasonography should alert the radiologist/gynecologist to look for associated Müllerian duct malformations due to the fact that one of every three females with renal agenesis will also have a significant Müllerian duct anomaly. Such knowledge is helpful in avoiding unnecessary procedures and surgery in such patients presenting with abdominal or pelvic complaints. The relevance of this article is to show the importance of further investigation in cases of primary amenorrhea with Müllerian agenesis to establish that the patient has MURCS association and not simply MRKH syndrome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Winter JS, Kohn G, Mellman WJ, Wagner S. A familial syndrome of renal, genital, and middle ear anomalies. J Pediatr 1968;72:88-93.
Kumar S, Sharma S. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia): A rare cause of primary amenorrhoea. Oxf Med Case Reports 2016;2016:73-5.
Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC. The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 1979;95:399-402.
Dreisler E, Stampe Sørensen S. Müllerian duct anomalies diagnosed by saline contrast sonohysterography: Prevalence in a general population. Fertil Steril 2014;102:525-9.
Westland R, Schreuder MF, Ket JC, van Wijk JA. Unilateral renal agenesis: A systematic review on associated anomalies and renal injury. Nephrol Dial Transplant 2013;28:1844-55.
Giorlando F, Recaldini C, Leonardi A, Macchi E, Fugazzola C. Duplex collecting system in a pelvic kidney-An unusual combination. J Radiol Case Rep 2017;11:8-15.
Chen Y, Nisenblat V, Yang P, Zhang X, Ma C. Reproductive outcomes in women with unicornuate uterus undergoing in vitro
fertilization: A nested case-control retrospective study. Reprod Biol Endocrinol 2018;16:64.