Mayer-Rokitansky-Küster-Hauser Syndrome: A rare case of a crossed-fused pelvic renal ectopia with variant vasculature and common ureter

Isa Hassan Muhammad; Anas Ismail; Murtala Yusuf; Nuhu Hassan

doi:10.4103/wajr.wajr_26_21

CASE REPORT

Year : 2021 | Volume : 28 | Issue : 2 | Page : 66-69

Mayer-Rokitansky-Küster-Hauser Syndrome: A rare case of a crossed-fused pelvic renal ectopia with variant vasculature and common ureter

Isa Hassan Muhammad¹, Anas Ismail¹, Murtala Yusuf², Nuhu Hassan²
¹ Department of Radiology, Aminu Kano Teaching Hospital Kano, Kano, Nigeria
² Department of Obstetrics and Gynaecology, Aminu Kano Teaching Hospital Kano, Kano, Nigeria

Date of Submission	09-Jun-2021
Date of Acceptance	29-Oct-2021
Date of Web Publication	11-Feb-2022

Correspondence Address:
Dr. Isa Hassan Muhammad
Department of Radiology, Aminu Kano Teaching, PMP 3452, Kano
Nigeria

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/wajr.wajr_26_21

Abstract

The association of renal abnormalities with Mullerian anomalies is well recognized and assessment of the renal tract forms part of the routine assessment of patients presenting with Mullerian anomalies. This is a case of a 20-year-old nulliparous female who had abdominopelvic ultrasonography on account of primary amenorrhea showing bilateral ectopic kidney fused in the pelvis, complete absence of the uterus, the cervix, and the upper part of the vagina; while normal sized ovaries seen. These were confirmed on computed tomography (CT). Renal CT angiograms showed a renal artery arising anteriorly from the abdominal aorta just above its bifurcation into the common iliac arteries. An interesting feature in this patient was the existence of the median sacral artery in the blood supply of the fused pelvic kidney. No skeletal anomalies were visualized in dorsolumbar spine or pelvis.

Keywords: Computed tomography, crossed-fused pelvic renal ectopia, Mayer-Rokitansky-Küster-Hauser syndrome

How to cite this article:
Muhammad IH, Ismail A, Yusuf M, Hassan N. Mayer-Rokitansky-Küster-Hauser Syndrome: A rare case of a crossed-fused pelvic renal ectopia with variant vasculature and common ureter. West Afr J Radiol 2021;28:66-9

How to cite this URL:
Muhammad IH, Ismail A, Yusuf M, Hassan N. Mayer-Rokitansky-Küster-Hauser Syndrome: A rare case of a crossed-fused pelvic renal ectopia with variant vasculature and common ureter. West Afr J Radiol [serial online] 2021 [cited 2023 Oct 3];28:66-9. Available from: https://www.wajradiology.org/text.asp?2021/28/2/66/337514

Introduction

Müllerian agenesis, also referred to as Müllerian aplasia, Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, has an incidence of 1/4,500–5,000 females.^[1] There are two subtypes of MRKH: the typical and the atypical forms.^[2] The typical form is characterized by laparoscopic/laparotomy findings of Mullerian remnants and normal Fallopian tube ^{More Details}s. The atypical form shows asymmetric hypoplasia of one or two buds, possible dysplasia of the fallopian tubes with one or more of the anomalies, such as unilateral or bilateral renal agenesis, ectopic kidneys, or horseshoe kidneys in 40%–60% of cases. Other abnormalities include cervicothoracic, hearing defects, and varying degrees of digital anomalies. The most severe form of the atypical form is referred to as Mullerian renal cervical somite association.^[2]

Case Report

A 20-year-old female presents with inability to menstruate at all in her life with also a concern of not conceiving after she has been married for more than a year, despite regular and unprotected sexual intercourse with the husband. There is no history of cyclical lower abdominal pain or swelling. There is no history of pelvic surgery or use of contraceptive pills. She is the sixth child of a nonconsanguineous marriage in a polygamous family setting. She had started developing secondary sexual characteristics at about 14 years; the sequence of which could not be recalled. Her siblings attained menarche at the age of 13–14 years and currently have children.

Physical examination revealed a young lady well preserved, with body mass index 18.1 kg/m². No obvious skeletal deformity noted with complete normal looking digits seen. There was normal female pubic hair distribution and axillary hair tanner stage 5. Bilateral symmetrical well-developed breasts were also as at tanner developmental stage 5. The cardiovascular and respiratory systems as well as abdominal examinations were normal. Bimanual examination reveals blind-ended vagina with stretched length of about 6 cm, no palpable cervix or uterus between examining fingers. There was a normally sited urethra and anus. Digital rectal examination showed good anal hygiene and normal sphincteric tone. Abdomen-pelvic ultrasonography (USG) revealed bilateral empty renal fossae and a 95 mm × 75 mm reniform-shaped structure in the pelvis overlying the dome of a distended urinary bladder due to an ectopic kidney. There was no hydronephrosis. In addition, there was complete absence of the uterus, the cervix, and the upper part of the vagina. The size of the ovaries was normal with the echo pattern of follicles seen.

The results of full blood count and renal function test were within normal limits. The contrast enhanced computed tomography (CECT) showed ectopically located kidneys in the pelvis overlying the anterior surfaces of the L5 vertebra and the sacral bones but more to the left side. The renal parenchyma of both kidneys are extensively fused to form a single renal mass with no intervening septum between them [Figure 1] and [Figure 2]. The renal artery arises from the anterior aspect of the abdominal aorta just proximal to the point of aortic bifurcation into the right and left common iliac arteries. This artery showed extrarenal bifurcation before supplying the fused kidney through the superior pole. An interesting feature in this patient was the existence of the median sacral artery in the blood supply of the fused pelvic kidney [Figure 3]. The collecting systems of the kidneys united to form a common ureter which followed a short course on the left side to join the urinary bladder at left vesicoureteric junction [Figure 4]. No ureter was outlined on the right side. Uterus was also absent. There are no skeletal anomalies.

Figure 1: Three- dimensional computedurograph tomography scan showed ectopically located kidneys in the pelvis overlying the anterior surfaces of the L5 vertebra and the sacral bones but more to the left side

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Figure 2: Contrast enhanced computed tomography showed a renal artery arising anteriorly from the abdominal aorta just proximal to its bifurcation. Artery bifurcates before supplying the fused kidney through the superior pole. The median sacral artery is seen supplying the fused renalpare

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Figure 3: Contrast enhanced computed tomography showed a renal artery arising anteriorly from the abdominal aorta just proximal to its bifurcation. Artery bifurcates before supplying the fused kidney through the superior pole. The median sacral artery is seen supplying the fused renal pare

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Figure 4: Computed tomography revealing a single ureter draining the collecting system of the crossed fused kidneys into the urinary bladder on the left side

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Discussion

Müllerian agenesis is second in frequency only to gonadal dysgenesis as a cause of primary amenorrhea. Women with the syndrome have 46 × x karyotype, female secondary sexual characteristics, and normal ovarian function, including cyclic ovulation but have absence or hypoplasia of vagina. One-third of women with this syndrome have abnormalities of urogenital tract and one-tenth have skeletal anomalies, usually involving the spine. The association of renal abnormalities with Mullerian anomalies is well recognized and consequently the assessment of the renal tract forms part of the routine assessment of patients presenting with Mullerian anomalies.^[3] This patient had cross-fused pelvic renal ectopia with variant vasculature and common ureter. Yakasai et al. reported a case of a 30-year-old lady with MRKH syndrome, but no associated renal or skeletal anomaly was found.^[4]

Fused kidneys are usually prevented from ascending to their normal position and remain in an ectopic position. In renal fusion anomalies, the vascular supply is grossly anomalous, similar to that of ectopically located kidneys by virtue of limited cranial migration. Crossed fused renal ectopia is a rare type of renal fusion anomaly in which both the kidneys are located on either side of the midline and in the vast majority of such cases, the crossed ectopic kidney is fused with the orthotopic located kidney.^[5] Kaur et al. reported a case of cross-fused ectopia with common right ureter.^[6] The ectopic kidney derives its blood supply from ipsilateral renal vessels in majority of cases, infrequently from the contralateral side with both kidneys having aberrant vascular morphology.^[7]

Review of the patient's medical history and a simple gynecologic examination usually are sufficient to diagnose MRKH syndrome.^[8] The diagnosis is confirmed mainly with imaging modalities of USG and magnetic resonance imaging. These help to definitively characterize the anatomy. Laparoscopy is considered when the earlier mentioned modalities have not yielded adequate information.^[9] CECT helps make an accurate diagnosis of crossed fused renal ectopia with visualization of the number of draining ureters and its vascular supply for better surgical management.^[10]

Conclusion

Crossed fused renal ectopia is an uncommon congenital anomaly which remains asymptomatic throughout life in majority of the population, found incidentally when patients are investigated for other abdominal pathologies. However, in cases of associated anomalies like this, CECT with multiplanar reconstruction provides excellent anatomical details of this anomaly.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Clin Genet 2017;91:233-46.
2.	Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches. J Negat Results Biomed 2006;5:1.
3.	Carr BR, Bradshaw KD, Kasper DL. Harrison's Principle of Internal Medicine. 16^th ed. New York: McGraw Hill, Medical Publishing Division; 2005. p. 2204.
4.	Yakasai IA, Daneji SM, Natasha A, Yunus EM. Late presentation of Mayer-Rokitansky-KusterHauser syndrome in the tropics-northern Nigeria. BJMMR 2015;5:1077-82.
5.	Rahul D, Gitanjali K, Mohit T, Vibhu G, Udit C. Crossed fused renal ectopia showing pelviureteric junction obstruction with single ureter and single renal artery. J Clin Diagnostic Res 2019;13:TD03-5.
6.	Kaur N, Saha S, Mriglani R, Saini P, Gupta A. Crossed fused renal ectopia with a single ureter: A rare anomaly. Saudi J Kidney Dis Transpl 2013;24:773-6. [PUBMED] [Full text]
7.	Bauer SB, Perlmutter AD, Retik AB. Anomalies of the upper urinary tract. In: Walsh PC, Retik AB, Stamey TA, Vaughan ED Jr., editors. Campbell's Urology. 8^th ed. Philadelphia: WB Saunders; 2002. p. 1898-906.
8.	Willemsen W, Dony J. A decade of experience in the treatment of hypoand aplasia of the vagina with the neovaginaplasty according to Davydov and with the (non-operative) method of Frank. Ned TJjdschr Geneeskd 1988;132:1199-202.
9.	Mueller GC, Hussain HK, Smith YR, Quint EH, Carlos RC, Johnson TD, et al. Müllerian duct anomalies: Comparison of MRI diagnosis and clinical diagnosis. AJR Am J Roentgenol 2007;189:1294-302.
10.	Taweel W, Sripathi V, Ahmed S. Crossed fused renal ectopia with hydronephrosis. Aust N Z J Surg 1998;68:808-9.