CEN Case Rep (2015) 4:61–64 DOI 10.1007/s13730-014-0139-9

CASE REPORT

Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney Masaki Shimizu • Seisho Sakai • Kazuhide Ohta Masatoshi Miyamoto • Akihiro Yachie



Received: 10 June 2014 / Accepted: 23 July 2014 / Published online: 30 July 2014 Ó Japanese Society of Nephrology 2014

Abstract Mu¨llerian anomalies are often associated with urinary tract anomalies. Herlyn–Werner–Wunderlich syndrome or obstructed hemivagina and ipsilateral renal anomaly are rare Mu¨llerian anomaly comprising uterine didelphys, obstructed hemivagina, and ipsilateral renal anomaly. We report an unusual case of uterus didelphys with obstructed hemivagina and contralateral (not ipsilateral) multicystic dysplastic kidney. An early diagnosis is critical to prevent complications such as adhesions with subsequent infertility. A careful evaluation of the female reproductive tract may be necessary in children with not only renal aplasia but also lateral renal anomalies such as multicystic dysplastic kidney.

urinary tract develop in close association with each other. Thus, Mu¨llerian anomalies are often associated with urinary tract anomalies [2]. Herlyn–Werner–Wunderlich syndrome or, more recently, obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) is a rare Mu¨llerian anomaly comprising uterine didelphys, obstructed hemivagina, and ipsilateral renal anomaly (Fig. 1a) [3]. In this report, we present the unusual case of uterus didelphys with obstructed hemivagina and contralateral (not ipsilateral) multicystic dysplastic kidney (MCDK).

Keywords Uterus didelphys  Obstructed hemivagina  Multicystic dysplastic kidney  Mullerian duct anomaly

A female infant with an antenatal diagnosis of intraabdominal cyst was born at the gestational age of 41 weeks through normal delivery. Abdominal ultrasound imaging and magnetic resonance imaging (MRI) revealed left MCDK, right ovarian cyst, and a cystic mass lesion in the urinary bladder (Fig. 2a, b). The right kidney and urinary tract were normal. DMSA scintigraphy could not detect the left kidney. A voiding cystourethrogram revealed a left cystic mass without vesicoureteral reflux (VUR). At the age of 2 years, a follow-up MRI scan at that time revealed multiple cysts in left kidney were completely regressed(Fig. 2c). A follow-up MRI at 6 years of age revealed the cystic mass in her bladder to be still present (Fig. 2d). Cystoscopy revealed the cystic mass to be an ureterocele. The right cervix was not seen by vaginoscopy. Gynecogram from left orifice of the uterus revealed left uterus (Fig. 2e). Gynecogram from vagina revealed right uterus (Fig. 2f). Based on these findings, a diagnosis of uterus didelphys with incomplete obstructed hemivagina was made (Fig. 1b). The patient is now 9 years old, and her renal function is normal (serum creatinine 0.24 mg/dl,

Introduction Congenital Mu¨llerian anomalies have been reported in 2–3 % of women [1]. The female reproductive tract and the M. Shimizu (&)  A. Yachie Department of Pediatrics, Institute of Medical Pharmaceutical, and Health Sciences, School of Medicine, Kanazawa University, 13-1 Takaramachi, Kanazawa 920-8641, Japan e-mail: [email protected] S. Sakai  M. Miyamoto Department of Pediatric Surgery, Institute of Medical Pharmaceutical, and Health Sciences, School of Medicine, Kanazawa University, Kanazawa, Japan K. Ohta Department of Pediatrics, Kanazawa Medical Center, Kanazawa, Japan

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Fig. 1 A graphical representation of OHVIRA syndrome (a) and the anomalies in this patient (b)

eGFR 196 ml/min/1.73 m2). She has not yet achieved menarche. If the patient presents with any clinical signs and symptoms related to the disease, a hemivaginal septal resection will be considered.

Discussion In 1971, the association of renal agenesis with ipsilateral blind hemivagina was reported as Herlyn–Werner syndrome, and the association of renal aplasia, bicornuate uterus with isolated hematocervix, and a normal vagina was reported by Wunderlich in 1976 [3, 4]. Herlyn–Werner–Wunderlich, or OHVIRA syndrome, is a rare congenital anomaly constituting 0.16–10 % of all Mu¨llerian tract anomalies [5]. Renal agenesis is the most common associated congenital anomaly and is typically seen on the side with the obstructed hemivagina. Sometimes, however, certain renal anomalies or, even rarely, two normal kidneys can be seen in association with uterus didelphys with obstructed hemivagina. There has been a report of MCDK associated with uterus didelphys and obstructed hemivagina [7]. Smith et al. [3] reported that renal agenesis was present in 20 of 27 patients (74 %) with OHVIRA syndrome; of the 27 patients, 3 (11 %) had two normal kidneys and 1 (3 %) had a contralateral duplex collecting system. The precise etiology and pathogenesis of this syndrome is still unknown. It is considered to represent the anomalous development of the paramesonephric (Mu¨llerian) and mesonephric (Wolffian) ducts. The Wolffian ducts, besides forming the kidneys, are also inductor elements for adequate Mu¨llerian duct fusion. Therefore, a developmental

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anomaly of the caudal portion of one of the Wolffian ducts may be the cause of unilateral renal agenesis associated with imperforate hemivagina [6]. On the side where the Wolffian duct is absent, the Mu¨llerian duct is displaced laterally and cannot fuse with the contralateral duct, resulting in a didelphic uterus. The contralateral Mu¨llerian duct gives rise to a vagina, whereas the displaced Mu¨llerian duct that cannot come into contact with the urogenital sinus centrally forms a blind sac, leading to an imperforate or obstructed hemivagina. To the best of our knowledge, our patient is the first reported case of uterus didelphys with obstructed hemivagina and contralateral MCDK. Although anomalous development of Mu¨llerian and Wolffian ducts might be associated with these anomalies, the precise etiology is unknown. In this patient, incomplete or segmental anomalous development of Mu¨llerian ducts might induce embryologic failure of fusion between uterine canal and sinovaginal bulb, resulting in these rare genital duct anomalies. OHVIRA syndrome is usually discovered at puberty, shortly after menarche because of the cyclic, increasing lower abdominal pain secondary to hematocolpos resulting from longstanding, retained, partially clotted menstrual blood in the obstructed hemivagina [4]. Delay in the diagnosis can lead to complications that include endometriosis, adhesions, infertility, and infectious complications due to chronic cryptomenorrhoea [5]. Delays in diagnosis have been attributed to lack of understanding of this condition by radiologists, gynecologists, urologists, nephrologists, pediatricians and pediatric surgeons. Furthermore, regular menstruation in the context of an incomplete vaginal outlet obstruction and slow extension of hematocolpos can also lead to delayed diagnosis [8]. MCDK is a form of renal dysplasia that leads to a nonfunctioning kidney due to abnormal and incomplete development. As observed in our patient, many MCDKs spontaneously involute. A significant proportion of patients diagnosed with unilateral renal agenesis, in the era before antenatal ultrasound screening, may actually have had a completely regressed MCDK [9, 10]. Although renal agenesis is the most common urological anomaly in OHVIRA syndrome, it may present as a completely regressed MCDK. This case indicates that MCDK might be more commonly associated with female reproductive tract anomalies. MCDK is associated with general dysmorphologies and contralateral urinary tract abnormalities such as VUR and pelviureteric junction obstruction. Thus, in addition to urinary tract abnormalities, female reproductive tract anomalies should be evaluated in patients with MCDK. In conclusion, this unusual case of uterus didelphys with obstructed hemivagina had contralateral (and not

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Fig. 2 Magnetic resonance imaging and gynecogram in the patient. MRI at birth revealed left multicystic dysplastic kidney (MCDK) (a, white arrow), right ovarian cyst (b, gray arrow), and cystic mass lesion in her bladder (b, white arrow). Her right kidney and urinary tract were normal. MRI at the age of 2 years revealed a completely regressed MCDK (c). Follow-up MRI at the age of 6 years revealed that cystic mass in her bladder was still present (d, white arrow). Gynecogram revealed uterus didelphys with incomplete right obstructed hemivagina (e, left uterus, white arrow; f, right uterus)

ipsilateral) multicystic dysplastic kidney. Early diagnosis is critical to prevent complications such as endometriosis or adhesions from chronic infections with subsequent infertility. A careful evaluation of the female reproductive tract may be necessary not only in children with renal aplasia but also lateral renal anomalies such as multicystic dysplastic kidney. Conflict of interest The authors report no conflicts of interest. The authors also declare that they have no financial associations to disclose in the drafting of this manuscript.

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64 report with radiological follow up. J Korean Soc Radiol. 2010;62:383–8. 5. Adair L II, Georgiades M, Osborne R, et al. Uterus didelphys with unilateral distal vaginal agenesis and ipsilateral renal agenesis: common presentation of an unusual variation. J Radiol Case Rep. 2011;5:1–8. 6. Orazi C, Lucchetti MC, Schingo PMS, et al. Herlyn-WernerWunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases. Pediatr Radiol. 2007;37:657–65. 7. Arias MP, Vellibre RM, Sanchez MM, et al. Uterus didelphys with obstructed hemivagina and multicystic dysplastic kidney. Eur J Pediatr Surg. 2005;15:441–5.

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CEN Case Rep (2015) 4:61–64 8. Han B, Herndon C, Rosen M, et al. Uterine didelphys associated with obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome. Radiol Case Rep 2010;5:327. 9. Mesrobian HG, Rushton HG, Bulas D. Unilateral renal agenesis may result from in utero regression of multicystic renal dysplasia. J Urol. 1993;150:793–4. 10. Hiraoka M, Tsukahara H, Ohshima Y, et al. Renal aplasia is the predominant cause of congenital solitary kidneys. Kidney Int. 2002;61:1840–4.

Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney.

Müllerian anomalies are often associated with urinary tract anomalies. Herlyn-Werner-Wunderlich syndrome or obstructed hemivagina and ipsilateral rena...
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