Herlyn-Weber-Wunderlich syndrome with ectopic ureter in prepubertal female.

We report a rare case of uterovaginal duplication in a prepubertal female. The patient also had a permeable ureter (ureter with urine passing through it) subtending a poorly functioning kidney with ectopic insertion in the obstructed hemivagina.

INTRODUCTION

Uterovaginal duplications are described as the consequence of a failure in the fusion process of the 2 mullerian ducts around 9 weeks of gestation.[1234] The incidence of this malformation is estimated within the range of 0.1-3.8% respectively.[1] A rare variant of this is Herlyn-Werner-Wunderlich syndrome. This syndrome has a triad of uterine didelphys, obstructed hemi-vagina and ipsilateral renal agenesis and is given an acronym obstructed hemi-vagina ipsilateral renal anomalies (OHVIRA).[1234] We here report a case of OHVIRA syndrome with ectopic insertion of the left ureter and review the pertinent literature for same and present a new embryological perspective.

CASE REPORT

The present case report is about a 10-year-old prepubertal female, presented with complaints of vague abdominal pain and dysuria. On examination, there was a well-defined mass in the suprapubic region. The mass was tender to deep palpation, firm cystic in nature, had restricted mobility and its lower limit could not be reached. On examination of the external genitalia, there was a vulvar mass with a normal vaginal orifice and urethral orifice [Figure 1]. The vulvar mass increased in size on suprapubic pressure on the abdominal mass. On digital rectal examination, a cystic mass was palpable anteriorly. Ultrasound abdomen showed left renal duplication with hematocolpos. There was no mention of any uterine anomaly. To delineate the anatomy, a magnetic resonance imaging (MRI) was done. It showed the presence of uterine didelphys with hematocolpos (8.4 cm × 7.4 cm), with an ectopic left kidney and its ureter opening in the obstructed hemi vagina [Figure 2]. A Di-mercaptosuccinic acid scan showed poorly functioning left kidney with a differential renal function of 2% and a normal right kidney. A diagnosis of obstructed hemivagina with ipsilateral renal anomaly was made. On cystoscopy, there was a single ureteric orifice on the right side with a hemitrigone. The trigone on the left was not developed. A needle aspiration of the vulvar orifice showed thick hemorrhagic fluid [Figure 1]. The vaginal septum was divided and septoplasty was done to create a single vaginal orifice. A diagnostic laparoscopy was performed to confirm the anatomy described by MRI and to tackle the ureteric and renal remnant. This revealed uterine didelphys with normal ovary and fallopian tubes with left uterine horn dilated when compared with right. The ureter and ectopic kidney were not visualized. We explored the abdomen and found the ectopically inserting ureter in the obstructed hemi-vagina. The ectopic ureter (ER) continued blindly, superiorly, up to 8 cm from the pelvic brim, in a fibrotic renal remnant 1.4 cm in size [Figure 3]. The lower end was dissected and ligated at its entry point in the hemivagina. The anatomical details have been represented as a line diagram in Figure 4. On histopathological examination, there was an oligonephric renal remnant with ureteric tissue. The patient on follow-up had no vaginal stenosis. An ultrasound abdomen done 2 months post-operatively showed normal hemiuterus.

Figure 1

(a and b) Vulval mass and aspirated hemorrhagic fluid

Figure 2

Magnetic resonance imaging showing hematocolpos with ER with renal remnant

Figure 3

Intra-operative figure showing anatomical details and a dilator (Arrow) passed through ectopic urteric orifice coming out of vagina. KR: Kidney remnant, EU: Ectopic ureter, EUO: Ectopic ureteric opening, U: Uterus, O: Ovary

Figure 4

Line diagram showing describing anatomy

DISCUSSION

The uterus didelphys represents 11-20% of Mullerian Duct Abnormality and a rare form of this class 3 anomaly is OHVIRA syndrome.[1234] This syndrome has been described with normal, dysplastic and a genetic ipsilateral kidneys with an ER remnant, which opens into the obstructed hemivagina.[1234567] Unilateral imperforate hemivagina associated with a single vaginal ER is very rare with incidence of 0.0064%.[8]

The characteristic spectrum of abnormalities described above makes us ponder to the exact embryology of this abnormality. The absence of the ureter and hemi trigone and presence of ER in the vagina signifies that the mesonephric ducts distal to the origin of ureteric bud gets absorbed in the paramesonephric ducts instead of the presumptive bladder. This may be the primary mechanism, which causes the pathology. This abnormal absorption leads to an embryological obstructive fold similar to that seen in males with posterior urethral valve, which does not allow the solid tip of the ipsilateral fused paramesonephric duct to reach the urogenital sinus and sinovaginal bulbs on that side. Thus, the hemivagina on that side is obstructed while that of the other side forms normally. The abnormal renal ascent and position can be explained by the abnormal ureteric bud and abnormally fused mesonephric duct causing obstruction to the normal ascent. Previously various authors have referred to some wolffian anomaly as a cause of the mullerian maldevelopment.[1] In a study by Acién et al.[9] postulated that entire vagina originates from the fused wolffian ducts. Thus, the blind hemivagina can be due to the failure of 1 wolffian duct to reach the urogenital sinus. Abnormal ureteric bud induction or obstruction leads to renal dysplasia or agenesis, is still not clear. Presence of multi cystic dysplastic kidney (MCDK) in antenatal cases and renal agenesis in adult cases have led to a hypothesis that primarily a dysplastic kidney involutes to lead to agenesis.[25]

There have been reports of OHVIRA syndrome ranging from the perinatal period to the post-pubertal period.[123456789] In the perinatal period, antenatal ultrasound showing a retrovesical pelvic mass with a dysplastic ipsilateral renal tissue should raise a suspicion.[5] Postnatally, OHVIRA syndrome is diagnosed around birth or after the onset of menses (the 2 periods of steroid hormonal impregnation in childhood).[1] It has also been diagnosed in the interim in patients with ER with a functioning renal moiety where urocolpos causes symptoms, like in our case.[1]

In the neonatal period common presentation is the presence of a soft translucent vulvar mass.[16] The presence of renal dysplasia or agenesis on that side should raise a suspicion of OHVIRA.[16] A careful local examination of the vulva, will show a normal vaginal opening and stretched hymen pushed forward but laterally by the blind hemi-vagina. If the diagnosis is not evident during this period, the hydrocolpos will decrease and the diagnosis will be delayed until puberty.[1] In the post-pubertal period, the most common symptom is cyclical pelvic pain with normal menstrual cycles.[1234567] Others can be dysmenorrhea, recurrent abdominal pain and abnormal vaginal discharge. This syndrome may remain unrecognized at first because the menstrual flow from the patent unobstructed hemi-vagina gives the appearance of normal menses and dysmenorrhea, if present, is a common complaint in this age group.[146]

Various studies have reported the presence of a remnant ureter along with the dysplastic or absent kidney.[12345] In one study there were 7 ER remnant out of 32 patients of OHVIRA.[1] In other study, 6 patients out of 12 cases of obstructed hemi vagina had remnant ER.[3] Theses ureteric remnants opened in the vagina in the majority of cases.[1234] The ureteric remnants mostly were under 10 cm and none extended more than a few centimeters above the level of the pelvic brim.[13] Our findings were similar to these. Normally the ureter and kidney both involute in a previously thought MCDK. The communication of an ER with obstructed hemi vagina leads to renal distension and prevents involution.[1234] There occurs self-involution of the ureteric remnants once the hemivagina is drained, provided they are blind. If they are permeable with urine or subtend a dysplastic moiety at the end they may take time to involute.[1234] The remnant, if not removed, may lead to complications such as incontinence, carcinoma and infections.[1234]

There has been an increase in the diagnosis of these complex anomalies over years. This can be attributed to both increased awareness and to availability of modern MRI techniques which efficiently pick these lesions. A pubertal female with a symptom of cyclical abdominal pain with a lump in lower abdomen with renal agenesis should lead to a suspicion of OHVIRA syndrome. A high degree of suspicion, based on the various presentations at different ages, is required for timely diagnosing and efficiently treating these complex conditions.