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Herlyn-Werner-Wunderlich Syndrome: A Case Report with Review of Literature

Parag J Karkera, Pradnya Bendre, Mukunda Ramchandra, Flavia D’souza
Department of Pediatric Surgery, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai, India

 

Abstract

Herlyn-Werner-Wunderlich syndrome, a rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures, is characterized by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. It generally presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. The treatment consists of vaginal septectomy and marsupialization of the blind hemivagina to maintain patency. Long-term outcome is quite good with expectation of normal fertility in most cases. Herein we report a case of a 13 year old female child with Herlyn-Werner-Wunderlich syndrome with hematometra and hematocolpos and also discuss review of literature.

Keywords: Herlyn-Werner-Wunderlich syndrome, uterus didelphys, obstructed hemivagina, renal agenesis

 

Correspondence

Parag J.Karkera
Ward 21, Bai Jerbai Wadia Hospital for Children
Acharya Donde Marg, Parel
Mumbai, 400012, India
E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.

 

Introduction

The Mullerian ducts are the primordium from which the female reproductive tract is derived. Mullerian duct anomalies (MDA) are congenital entities resulting from nondevelopment (agenesis or hypoplasia), defective vertical or lateral fusion, or resorption failure of the Müllerian (paramesonephric) ducts. Herlyn-Werner-Wunderlich syndrome (HWWS) represents a type of MDA associated with mesonephric duct anomalies [1]. HWWS, also known as OHVIRA (Obstructed hemivagina and ipsilateral renal agenesis) syndrome represents a complex female genital malformation characterized by: (1) uterus didelphys, (2) unilateral low vaginal obstruction, and (3) ipsilateral renal agenesis, all 3 being secondary to mesonephric duct–induced müllerian anomalies [1, 2].

The combination of obstructed hemivagina and uterus didelphys was first reported in 1922 [3] however the triad of obstructed hemivagina and uterus didelphys as well as an ipsilateral renal anomaly was first reported in 1950 [4]. The classification of MDAs by the American Society of Reproductive medicine includes HWW syndrome as Type III uterine anomaly with Ia vaginal anomaly and renal agenesis malformations [5]. The exact cause, pathogenesis, and embryologic origin of HWW syndrome are uncertain, but the diagnosis and treatment at an early stage can relieve acute symptoms and preserve normal fertility. Septectomy and marsupialization are considered the optimal management [6, 7]. We present a case report of a 13 year old patient with the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis managed with a single stage vaginoplasty.

Case Report 

13 -year-old girl, who had attained menarche one year back, presented to us with a 5-month history of dysmenorrhea. She had been prescribed antispasmodics-analgesics by a local doctor, which had not relieved her symptoms. When she eventually presented to us, she was having severe colicky abdominal pain during menses with a background of continuous, dull aching pain throughout. She also complained of a lump in the left lower abdomen noticed 2 months back.

On clinical examination, a discrete lump, having an irregular surface, was palpable in the left iliac region arising from the pelvis. The lump was tender on deep palpation and mobile in the transverse axis. On investigating, the routine haematological and biochemical profile was normal. Ultrasonography of the abdomen and pelvis revealed a multicystic mass in the left iliac fossa with absence of left kidney in the renal fossa suspicious of an ectopic multicystic dysplastic kidney. In addition, it showed a bicornuate uterus with hematometra and another cystic lesion besides the uterus suggestive of a superior vaginal or Gartner’s cyst. For better delineation of the pathology, we further investigated with a CT scan of the abdomen and with MRI of the pelvis. It revealed the presence of uterine didelphys with normal right horn of uterus, tube and ovary. The left horn of the uterus, fallopian tube and left vagina was distended with hyper intense fluid (suggestive of blood) along with a bulky left ovary. This was suggestive of left hematometra, hematocolpos, hematosalpinx and left hemorrhagic ovarian cyst probably due to an obstructed left hemi-vagina (Fig. 1A, 1B, 1C).

Figure 1A, 1B, 1C : CT scan images showing hematometra , hemato salpinx in the left horn of the uterus with absence of left kidney.

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The left kidney was absent. DMSA renal scan confirmed the absence of the left kidney with compensatory hypertrophy of the right kidney (Fig. 2). Based on all the investigations, decision was made to perform an examination under anesthesia to establish the diagnosis and to drain the haematocolpos and haematometra. Examination revealed a normal vulva, but there was a protruding mass on the left side of the vaginal introitus encased by a bulging septum.

Figure 2: DMSA renal scan showing absent left kidney.

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On cystogenitoscopy, the urinary bladder appeared normal and a patent right hemivaginum and cervix of the right horn of uterus. The septum of the bulging mass was punctured with a 16 G needle and old altered blood was aspirated (Fig 3A). The septum was divided, centred on the puncture site resulting in drainage of approximately 200–300 ml of altered brown colored blood (Fig 3B). The edges of the septum were subsequently marsupialized to maintain its patency. A No. 24 tube drain was passed through the septoplasty to maintain its patency and drainage. The drain was removed on post-operative day 4. The patient had an uneventful recovery. Post-operative ultrasound at 2 months follow up (post 2 menstrual cycles) , shows no more collection in the left hemiuterus, vagina and decrease in the size of the ovarian cyst. A follow-up vaginoscopy at 2 months post-op, revealed stenotic septoplasty which was redilated.

Figure 3: Intra-operative picture showing (A): Right patent hemivagina (white arrow) and transverse vaginal septum on left side hemorrhagic fluid being aspirated through the septum (B) Hemorrhagic fluid drained from left hemivagina

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Discussion

In 1971, the association of renal agenesis with ipsilateral blind hemivagina was reported as Herlyn- Werner syndrome, [8] whereas the association of renal agenesis, bicornuate uterus with isolated hematocervix, and a simple vagina was reported by Wunderlich in 1976 [9]. The incidence of uterus didelphys is about 1/2,000 to 1/28,000. It is accompanied by unilateral renal agenesis in 43% of cases.

The incidence of unilateral renal agenesis is 1/1,100, and 25-50% of affected women have associated genital anomalies [1, 6]. HWWS constitutes 0.16-10% of all Mullerian duct abnormalities. The incidence of HWWS has been estimated to be 1 in 20,000 females [10].

MDA comprise a wide range of anatomical and clinical manifestations of the female genitourinary system. Lateral fusion defects are the commonest type of MDA. It may vary from symmetric or asymmetric to obstructed or non-obstructed fusion anomalies [7]. The American Society for Reproductive Medicine classifies the MDA into 7 types, with our case a rare variant of class 3 MDA [5]. The modified classification of 2004 of Acién et al. classifies the female genital tract malformations into (1)anomaly of the whole urogenital ridge; (2) mesonephric anomalies; (3) müllerian anomalies; (4) urogenital, cloacal with others; and (5) combination of wollfian, müllerian, and cloacal anomalies. HWWS belongs to type 2 in the above classification being primarily a wolffian-induced müllerian anomaly [11].

Embryologically, the female reproductive tract develops at the same time and close to the urinary tract and kidneys from the development of two pairs of Wolffian ducts (mesonephric duct) and Mullerian ducts (paramesonephric duct). Hence, female reproductive tract anomalies may be associated with urinary tract anomalies such as renal agenesis (commonest in MDA, with right sided prevalence), pelvic kidney, duplication of the collecting system, or ectopic ureters or multicystic kidney [1, 12].

Mesonephric duct anomalies cause lateral deviation of the ipsilateral paramesonephric duct [7]. These anomalies have been attributed to the failure of paramesonephric ducts to fuse, which results in two separate hemiuteri, combined with the failure of Mullerian tubercles to meet and perforate into the urogenital sinus, resulting in an imperforate ipsilateral hemivagina [10]. A didelphic uterus is due to developmental arrest in the 8th week of gestation, which eventually affects the Mullerian and Metanephric ducts [13]. Renal agenesis is hypothesized to be due to the developmental arrest in one of the Wolffian ducts that ceases the genesis of the ipsilateral metanephric duct and disrupts the fusion of the Mullerian ducts [14].

HWWS patients most commonly present at puberty, a few years after menarche, although it can present in adulthood as primary infertility [1, 2] and has also been reported in a neonate, presenting as a mass prolapsing per vaginum [6]. Usually, HWWS patients have a normal onset of menstrual cycles with bleeding from the unobstructed hemiuterus. The primary presenting symptom is cyclical lower abdominal pain evolving into continuous severe pain with increasing distension of the obstructed hemivagina which may be associated with a foul-smelling mucopurulent discharge [10]. On physical examination, a unilateral pelvic mass is usually felt twice as often on the right side as on the left side [7, 10, 14].

A lower paravaginal bulging mass may be palpable, which could obstruct the contralateral hemivagina. Partially clotted blood collected over a period of time in the hematocolpos with subsequent hematometra and hematosalpinx leads to abdominal and pelvic pain in these patients [14]. In delayed cases, bleeding into the peritoneal space may occur as a consequence of retrograde menstruation. Delay in diagnosis can lead to complications that include endometriosis, adhesions, infertility and infectious complications arising from chronic cryptomenorrhea [1, 7, 14]. As seen in our case, it is not easy to achieve to an early diagnosis, since menstruation is often regular and patients are usually given anti-inflammatory drugs and oral-contraceptives for cyclic dysmenorrhea. This causes a delay in the diagnosis because they reduce or eliminate menses. Ultimately, HWWS is uncommon and not often thought of as a diagnostic possibility [1].

Although ultrasound, CT scan, and hysterosalpingography are commonly used for diagnosis because of their low cost, MRI is the most accurate method for diagnosis, up to 100% in some reports [1, 7, 12]. Ultrasonography is useful in the diagnosis of MDA and the detection of haematocolpos, which appears as a fluid collection with lowlevel echoes and can make the diagnosis of genito-urinary tract anomaly easier, although it may not identify the type of MDA [1, 7].

MRI, is a suitable technique for the non-invasive evaluation of female pelvic anatomy because it provides more detailed information regarding uterine contour, the shape of the intrauterine cavity morphology, the continuity with each vagina (obstructed and non-obstructed) lumen, the character of the septum, and fluid content nature, as well as associated aspects such as endometriosis, pelvic inflammation and adhesions and renal anomalies [2, 7, 10]. Even in our case, although ultrasound had detected uterine didelphys, the accurate details of the anatomy were detected by MRI. Although, laparoscopy is considered the gold standard for the evaluation of female reproductive tract anomaly, in HWWS, it is reserved when the diagnosis is not clear after imaging or when MRI is not available [1, 7].

In our case, as MRI had given us the diagnosis, diagnostic laparoscopy was not considered. Laparoscopy can be also therapeutic in some selected cases such as: drainage of hematocolpos/hematometrocolpos, septectomy, or marsupialization of the blind hemivagina [1].

The primary objective of surgical intervention in HWWS is to relieve the outflow obstruction resulting from an imperforate hemivagina. The optimal treatment is full excision and marsupialization of the vaginal septum via a transvaginal approach; although a conservative approach of transvaginal septotomy and marsupialisation have shown good results [6, 7, 10]. Lately, hystero-vaginoscopy has been used as an efficient diagnostic and therapeutic modality in the management of HWWS patients.

Vaginoscopic excision of the vaginal septum is considered less invasive, maintains the patient’s virginity by preserving the hymenal ring and has a lower risk of recurrence of the septal defect [14, 15].

Ultrasound guidance, during surgery, determines the incision site with more precision, shortens duration of surgery and improve the safety of the procedure, and shorten the operating time [10]. If surgical intervention has to be deferred for some reason, oral contraceptive pills may be prescribed for menstrual suppression to prevent further accumulation of hematocolpos and further hematometra [1].

Even after surgical intervention, only 10% of live births originate from the affected side. But, softening of the vaginal septum which decreases the chances of obstructed labour and successful fertilization occurring in the contralateral uterus improves the obstetric outcome [10]. Literature search shows many case reports of HWWS patients in pubertal age with no long-term follow-up. A retrospective study of 36 HWWS patients with a 30 year follow-up revealed, 87% of the patients wanting children had successful pregnancy, 23% of the patients had abortions, 15% had preterm births, and 62% had full-term pregnancies for an overall live birth rate of 77% [16].

Concluding, Herlyn-Werner-Wunderlich syndrome is a rare MDA seen mainly in the postpubertal female population. Lack of suspicion due to the rarity of this syndrome can lead to delay in the diagnosis. The diagnosis can often be confirmed on MRI. The treatment of choice is vaginal septectomy and marsupialization. Longterm outcome in the absence of complications remains good with regard to fertility, with 87% of patients having a successful pregnancy.



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