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GENITOURINARY RADIOLOGY  
Year : 2017  |  Volume : 27  |  Issue : 3  |  Page : 298-301
Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad


Department of Radiology, Dr. Ziauddin University Hospital, Karachi, Pakistan

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Date of Web Publication25-Sep-2017
 

   Abstract 

Unilateral renal agenesis (URA) is a rare condition with a reported incidence of 0.93–1.8 per 1000 autopsies. It is commonly diagnosed as an incidental finding on imaging.URA is frequently associated with other genitourinary anomalies. Different associations have been described in both males and females, however, to our knowledge, it has not been reported with subseptate uterus (SSU) and sacrococcygeal teratoma (SCT) in the same individual. Here, we present a unique case of URA with SSU and SCT.

Keywords: Sacrococcygeal teratoma; septate uterus; subseptate uterus; renal agenesis

How to cite this article:
Ahmed MS, Imtiaz S, Pathan H, Usman R. Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. Indian J Radiol Imaging 2017;27:298-301

How to cite this URL:
Ahmed MS, Imtiaz S, Pathan H, Usman R. Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. Indian J Radiol Imaging [serial online] 2017 [cited 2020 May 29];27:298-301. Available from: http://www.ijri.org/text.asp?2017/27/3/298/215577

   Introduction Top


Congenital unilateral renal agenesis (URA) is rare and occurs in 0.93–1.8 per 1000 autopsies.[1]

It is commonly diagnosed as an incidental finding on imaging. It is frequently associated with other genitourinary anomalies in both males and females. Genital anomalies are more common in females and constitute approximately 37–60%. Among various genital anomalies, subseptate uterus (SSU) is not commonly seen with URA. Approximately 50% of the patients with solitary absent kidney have associated urological anomalies along with skeletal, gastrointestinal, and cardiovascular abnormalities.[2] URA has not been previously reported with sacrococcygeal teratoma (SCT). SCT is the most common germ cell tumor in newborns, occurring in 1 in 40000 live births with a marked female predominance (75%).[3] Here, we present a unique case of URA associated with SSU and SCT.


   Case Presentation Top


A 1½-year-old female child presented in our radiology department with a palpable mass on the lower back with nocturnal enuresis and recurrent urinary tract infections (UTI). On examination, a large mass was present on the lower back. Initially, ultrasound was performed that demonstrated a large heterogeneous lesion with multiple areas of cystic necrosis on the lower back. A small uterus was present showing dilated central cavity [Figure 1]. Then, computed tomography (CT) of the abdomen and pelvis was done that demonstrated a large heterogeneously enhancing soft tissue density mass centered in the presacral space measuring approximately 12.1 × 9.0 × 7.5 cm [Figure 2]A and [Figure 2]B. The mass was arising from the distal sacrum and coccyx with extension into the sacral spinal canal. It was compressing and displacing the rectosigmoid colon, uterine cavity, and urinary bladder anteriorly and showing infiltration in to adjacent gluteal muscles. The uterus showed dilated fluid-filled endometrial cavity with a midline partial septum dividing the endometrial cavity. The septum was not extending up to endocervical canal and represents a SSU [Figure 3]. Right kidney was not present in right renal bed and also not seen elsewhere in the abdomen [Figure 4]. Left kidney was enlarged showing compensatory hypertrophy. Laboratory findings were remarkable for raised serum levels of alpha-fetoprotein. Biopsy of the mass was done and histopathological findings confirmed SCT of yolk sac variety.
Figure 1: Ultrasound image showing a large heterogeneous lesion with multiple areas of cystic necrosis at lower back

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Figure 2 (A and B): (A) Axial image of contrast-enhanced CT scan abdomen showing a large heterogeneously enhancing soft tissue tumor mass lesion involving presacral space with areas of cystic necrosis in it. Biopsy proven SCT. (B) Coronal image of contrast-enhanced CT scan abdomen showing a large heterogeneously enhancing soft tissue tumor mass lesion involving presacral space with areas of cystic necrosis in it. Biopsy proven SCT

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Figure 3: Coronal section of contrast-enhanced CT scan abdomen demonstrating SSU associated with SCT

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Figure 4: Coronal section of contrast-enhanced CT scan abdomen showing absence of right kidney in right renal bed and elsewhere in abdomen with compensatory hypertrophy of left kidney

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   Discussion Top


URA is generally thought to result either from failure of the development of the ureteric bud or to a defect of its interaction with the metanephric blastema involving one side of the urinary tract.[4] Left kidney is more frequently involved than the right one with male-to-female ratio of 1.8.[2] However, in this case, right kidney was absent. It is frequently associated with other genitourinary anomalies in both males and females. Approximately 50% of the patients with solitary absent kidney have associated urological anomalies such as absent ureter, vesicoureteral reflux, ureterovesical and ureteropelvic junction obstruction. Similarly, skeletal, gastrointestinal, and cardiovascular abnormalities have also been reported.[2] URA may also present as a part of multiorgan syndrome. Mayer–Rokitanski–Kuster–Hauser syndrome is a combination of vaginal agenesis, abnormal uterus, renal, and skeletal anomalies. Similarly, URA has also been described with Herlyn Werner Wunderlich syndrome, Kallmann syndrome, Brachio-oto-renal syndrome, trisomies and Turner syndromes.

Genital anomalies are more common in females accounting for 37–60%. The patient in this case had SSU. Septate uterus is the most common Mullerian duct anomaly, accounting for approximately 55% of the cases.[5] Its diagnosis is important because it is surgically correctable and has a strong association with repeated miscarriage. The most common diagnostic dilemma encountered is difficulty to differentiate between a septate and bicornuate uterus. The primary difference is the appearance of the uterine fundus; a septate uterus will have a normal convex external fundal contour. The septum itself originates from the midline of the uterine fundus and is a result of complete or partial failure of reabsorption of the uterovaginal septum. The septum may be partial or complete. A partial septum extends proximal to external cervical os while complete septum extends to the external cervical os, and may even extend into the vagina in approximately one-fourth of patients.[6] Although it is the most common uterine anomaly, it is notcommonly associated with URA. To our knowledge, no association of URA and SSU has been reported till date. Only one case of unilateral absent kidney has been reported with complete septate uterus along with obstructed hemivagina and unilateral agenesis of ovaries and  Fallopian tube More Details by Mi Sun Kim et al.[7] Common genital anomalies associated with URA include uterine hypoplasia or agenesis, uni or bicornuate uterus, absent or aplastic vagina, absent fallopian tube and abnormal external genitalia. Renal anomalies are described in 40% of the cases with Mullerian aplasia and with unicornuate uterus.[8] Rolen et al.[9] found ipsilateral renal agenesis in 67% of patients with unicornuate uterus and pelvic kidney in 13%. Li et al.[10] reported renal agenesis in 30% of women with Mullerian duct anomalies and 80% of women with uterus didelphys. Ultrasound in combination with magnetic resonance imaging (MRI) plays an important role in diagnosing different abnormalities of female genital tract, especially uterine anomalies. To distinguish between septate/subseptate and bicornuate uterus MRI of the pelvis is the preferred modality. However, in this case, SSU was diagnosed on ultrasound and CT scan, MRI was not performed.

The patient in this report also had SCT. SCT is the most common germ cell tumor presented in newborns, occurring in 1 in 40000 live births. Females are more commonly affected than males with a ratio of 4:1.[2] Most of the SCTs are cystic and benign and only 1–2% are malignant.[11]

SCT are generally thought to develop from pleuripotential embryonic cells that has differentiated and matured. These primordial germ cells that deviated from their migratory pathway from the yolk sac to the gonad during early embryogenesis typically rest anterior to the future coccyx at Hensen's node. Growth of these primitive pleuripotential cells escapes the control of embryonic inductors and organizers, resulting in development of teratoma.[12]

SCT is associated with anorectal, vertebral and urogenital anomalies. Vogl and Riel [13] reported a case of Currarino's triad in which there is a combination of anorectal malformation and sacral dysplasia with a pre-sacral mass. In a study conducted by Lahdenne et al.[14] benign SCT was associated with vertebral abnormalities in 80% of the cases. The association of urogenital anomalies and SCT has not been widely reported. Shalaby et al.[15] reported a 12% incidence of urogenital anomalies, which were not apparent at the initial surgery and diagnosed later in life. Sahinoglu et al.[16] reported a case of urogenital sinus which was prenatally diagnosed in a fetus of type 4 SCT.

The treatment of SCT depends upon benign or malignant nature of the lesion and include removal of entire tumor and the coccyx bone. The chance of tumor recurrence is low with the removal of coccyx bone. Usually surgical removal of entire tumor is sufficient for benign tumors. However, individuals with malignant tumors receive additional treatment with chemo and radiation therapy.[12]


   Conclusion Top


We report an unusual presentation of unilateral renal agenesis with SSU and SCT. Further exploration of this manifestation needs to be done in future to understand this unusual presentation and association.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Barakat AJ, Drougas JG. Occurrence of congenital abnormalities ofthe kidney and urinary tract in 13, 775 autopsies. Urology 1991;38:347-50.  Back to cited text no. 1
[PUBMED]    
2.
Barakat AJ. Association of unilateral renal agenesis and genital anomalies. Case Rep ClinPract Rev 2002;3:57-60.  Back to cited text no. 2
    
3.
Avni FE, Guibaud L, Robert Y, Segers V, Ziereisen F, Delaet MH, et al. MR imaging of fetal sacrococcygealteratoma: Diagnosis and assessment. Am J Roentgenol 2002;178:179-83.  Back to cited text no. 3
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4.
Mishra A. Renal agenesis: Report of an interesting case. Br J Radiol 2007;80:167-9.  Back to cited text no. 4
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5.
Homer HA, Li TC, Cooke ID. The septate uterus: A review of management and reproductive outcome. FertilSteril 2000;73:1-14  Back to cited text no. 5
    
6.
Propst AM, Hill JA. Anatomic factors associated with recurrent pregnancy loss. Semin Reprod Med 2000;18:341-50.  Back to cited text no. 6
    
7.
Kim CS, Nam SY, Lee G. Complete septate uterus, obstructed hemivagina, and ipsilateral adnexal and renal agenesis in pregnancy. Obstet Gynecol Sci 2014;57:310-3.  Back to cited text no. 7
    
8.
Fedele L, Bianchi S, Agnoli B, Tozzi L, Vignali M. Urinary tract anomalies associated with unicornuate uterus. J Urol 1996;155:847-8.  Back to cited text no. 8
[PUBMED]    
9.
Rolen AC, Choquette AJ, Semmens JP. Rudimentary uterine horn: Obstetric and gynecologic implications. Obstet Gynecol 1966;27:806-13.  Back to cited text no. 9
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10.
Li S, Qayyum A, Coakley FV, Hricak H. Association of renal agenesis and mullerian duct anomalies. J Comput Assist Tomogr 2000;24:829-34.  Back to cited text no. 10
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11.
Afuwape OO, Ogundoyin OO, Ogunlana DI, Adeleye AO. Adult Sacrococcygeal Teratoma: A Case Report. Ghana Med J 2009;43:40-2.  Back to cited text no. 11
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12.
National Organization for Rare Disorders (NORD). Sacrococcygeal Teratoma. 2007. [updated 2007]. Available from: URL: http://rarediseases.org/rare-diseases/sacrococcygeal-teratoma. [Last accessed June 1, 2016].  Back to cited text no. 12
    
13.
Vogl D, Riel KA. Presacral tumor with sacral meningocele. Z Kinderchir 1988;43:361-4.  Back to cited text no. 13
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14.
Lahdenne P, Heikinheimo M, Jääskeläinen J, Merikanto J, Heikkilä J, Siimes MA. Vertebral abnormalities associated with congenital sacrococcygeal teratomas. J Pediatr Orthop 1991;11:603-7.  Back to cited text no. 14
    
15.
Shalaby MS, O'Toole S, Driver C, Bradnock T, Lam J, Carachi R. Urogenital anomalies in girls with sacrococcygeal teratoma: A commonly missed association. J Pediatr Surg 2012;47:371-4.  Back to cited text no. 15
    
16.
Sahinoglu Z, Cerrah Celayir A, Resit Asoglu M, Özcan N. Type IV Sacrococcygeal Teratoma Associated with Urogenital Sinus: Difficulties in the Prenatal Differential Diagnosis. J Neonatal Surg 2013;2:9.  Back to cited text no. 16
    

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Correspondence Address:
Sheeza Imtiaz
Department of Radiology, Dr. Ziauddin University Hospital, Karachi
Pakistan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.215577

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