Abstract
The obstructed haemivagina with ipsilateral renal agenesis (OHVIRA) syndrome also known as Herlyn-Werner-Wunderlich syndrome, a rare congenital malformation in females, results due to developmental abnormality in the müllerian duct. We are reporting a case of a 14-year-old girl who presented with pain and a lump in abdomen for the last 5 months. The MRI abdomen and pelvis confirmed the diagnosis of OHVIRA syndrome. The patient underwent haematocolpos and haematometra drainage, followed by vaginal septum resection.
Keywords: obstetrics and gynaecology, musculoskeletal and joint disorders, radiology (diagnostics)
Background
Müllerian duct anomalies (MDAs) are the structural anomalies that occur during the embryonic morphogenesis in the eighth week of gestation. Genetics and maternal exposure to teratogens play an important role in MDA. The exact incidence or prevalence of obstructive MDAs in the general population is unknown, but estimates range from 0.1% to 3.5%.1
The Herlyn-Werner-Wunderlich (HWW) syndrome also known as Obstructed haemivagina with ipsilateral renal agenesis (OHVIRA) syndrome is a rare variant of MDA which is a triad of uterus didelphys, OHVIRA.2 The patient with OHVIRA syndrome presents after a few months of attaining menarche with dysmenorrhoea, pain abdomen and lump abdomen. The exact cause and pathogenesis of OHVIRA syndrome are not known; however, the diagnosis and treatment at an early stage can relieve acute symptoms and preserve normal fertility.
Here, we are highlighting a case of a 14-year-old girl who presented with pain and a lump in abdomen for the last 5 months. On evaluation, she was found to have a rare müllerian anomaly OHVIRA syndrome.
Case presentation
A 14-year-old girl presented in the emergency department with pain and a lump in lower abdomen for the last 5 months. Initially, she only had cyclical pain but gradually the pain became continuous in nature, irrespective of the menstrual cycle. It was moderate in intensity, dull in nature, non-radiating and not associated with vomiting, loose motions, fever and urinary complaints. The abdominal lump was occupying the right iliac fossa, being soft to firm in consistency with mild tenderness.
Menstrual history
She attained menarche at the age of 13 years. She was having regular cycles of 35 days with an average flow and normal duration of 3 days. However, it was associated with dysmenorrhoea.
Medical history
The patient is having evident kyphoscoliosis since birth for which she never consulted or took any treatment.
Family history
There was no similar history in the family.
On physical examination
She was short statured (height—131 cm) with evident kyphoscoliosis and normal secondary sexual characters (figure 1A).
Figure 1.
(A) Short statured 14 years old girl with kyphoscoliosis. (B) A 10×8 cm abdominopelvic mass in right iliac fossa.
On abdominal examination: A 10×8 cm tender mass in the right iliac fossa, soft to firm in consistency with regular margin and smooth surface was felt (figure 1B).
The external genitalia appeared normal. The same mass was felt per rectally in the pouch of Douglas.
Investigations
Biochemical parameters
These were within normal limits.
Ultrasonography pelvis
Uterine didelphys with haematometra.
MRI abdomen and pelvis
Uterus showed MDA in the form of a uterus didelphys. The right endometrial cavity and vaginal canal were elongated and grossly dilated with T1 and T2 hyperintense internal contents extending up to right iliac fossa suggestive of haematometra and haematocolpos.
The right fallopian tube was grossly dilated and tortuous with T1 and T2 hyperintense content with dependent debris suggestive of haematosalpinx. The left uterine corpus and left haemivagina were normal. It was compressed and displaced by right haematometra and haematocolpos. The left ovary was normal. The right ovary was also normal in appearance but compressed by haematosalpinx (figure 2A).
Figure 2.
(A) MRI pelvis showing the compressed left uterine corpus with patent vagina. Right-sided haematometra and haematocolpos seen. (B) Drainage of collected tarry blood. (C) Vaginal septum resection. (D) Laparoscopic view of left and right uterine corpus with normal ovaries.
The left kidney was apparently normal and the right kidney was not visualised.
There was scoliosis of the dorsolumber spine with convexity towards the left along with agenesis of coccyx vertebral segments.
Differential diagnosis
Right ovarian neoplasm (benign or malignant): a firm 10×8 cm mass was present in the right iliac fossa.
Mature cystic teratoma/immature cystic teratoma.
Ovarian neoplasm.
Ovarian endometrioma.
Ovarian torsion.
Tubo-ovarian abscess.
Neoplasm of fallopian tube.
Payosalpinx.
Appendicular lump or abscess.
Treatment
Examination under anaesthesia revealed a bulge on the right side of the upper vagina with normal looking cervix on the left side. An incision was given on the vaginal bulge and 300 mL of thick tarry blood was drained (figure 2B). The vaginal septum was resected adequately (figure 2C) and the right cervix was reached. The vaginal wall was approximated using delayed absorbable polyglactin suture (1–0). On vaginoscopy and hysteroscopy, two cervices with two uterine cavities were visualised clearly. On laparoscopy, there was one uterine corpus, 8×8 cm haematosalpinx and normal looking ovary present on the right side of pelvic cavity. On the left side of pelvic cavity, other uterine corpora with normal-looking fallopian tube and ovary were seen (figure 2D). The salpingostomy was done to drain the large haematosalpinx.
After 1 week of surgery, the patient was re-examined under intravenous sedation to look for local hygiene and patency. On examination, right-sided haemivagina was patent with the normal cervix. The postoperative period was uneventful and the patient was discharged on day two of re-examination (day 9 of primary surgery).
Outcome and follow-up
The patient was discharged on the ninth day of the first surgery.
She reported normal menstruation after 1 month of surgery.
She is having regular menstruation for last 6 months with no other related complaints.
Discussion
The paramesonephric duct gives rise to fallopian tubes, uterus, cervix and upper one-third of the vagina. The MDAs occur at the gestation of eighth week with the prevalence of 2%–3% in women. The obstructive MDAs are rare. The HWW syndrome is characterised by obstructed haemivagina, uterine didelphys and ipsilateral renal agenesis. According to the European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy, HWW syndrome is classified as U3BC2V2.3 The Hox gene expression controlled by the ‘Wnt’ signalling pathway regulates the uterine morphology. Alteration in this pathway can lead to Mullerian duct abnormalities, yet no specific gene mutation is responsible for the defects.4
In the case of MDAs, there are increased chances of having anomalies related to the metanephric duct as it is in close approximation with the müllerian duct. The most common malformation associated with MDAs is renal agenesis followed by multidysplastic kidney and renal duplication.1 5 In the present case, kidney malformation was diagnosed on MRI while evaluating the patient for genital tract anomaly.
This syndrome is diagnosed after menarche when the patient presents with usual symptoms of pain abdomen, dysmenorrhoea or abdominal lump. Due to obstructed haemivagina, there is a collection of menstrual blood in the uterus (haematometra) and vagina (haematocolpos) leading to pain abdomen and abdominal lump.
Few patients can present with hydrosalpinx, endometriosis and chronic pelvic pain. Timely diagnosis and treatment are important to relieve the symptoms and prevent complications and infertility.
The ultrasonography (USG) and MRI play an important role in diagnosis. The USG (sensitivity of 100% and a specificity of 80%) is widely available and cost-effective but the sensitivity and specificity of MRI is 100% in detecting uterine malformation, continuity with the vagina and the site of obstruction in the vagina.6 Hence, MRI is considered as a gold-standard diagnostic modality to detect the MDAs and has an important role in deciding the type of surgery.
The mainstay in the treatment of OHVIRA syndrome is excision of vaginal septum followed by vaginoplasty which can be done in one-stage or two-stage procedure.1 The vaginal septum can also be resected hysteroscopically to preserve the hymenal integrity in young unmarried females.7
In association with MDAs, skeletal anomalies (scoliosis, vertebral arch disturbances, hypoplasia of the wrist) have also been reported in approximately 8%–32% of patients.8 Whether it is an association or coincidence, is still not clear. Our patient also presented with kyphoscoliosis along with müllerian anomalies which led to difficulty in getting preanaesthetic clearance for the laparoscopic procedure. Thus, it is important to evaluate the patients with a skeletal deformity for coexisting müllerian duct abnormality and vice versa.
Patient's perspective.
I had pain and swelling in my stomach for the past 5 months. I was told that the passage to my uterus was obstructed and that it would be cleared surgically. I have been feeling much better after the surgery, and I am satisfied with the treatment.
Learning points.
Obstructed haemivagina with ipsilateral renal agenesis (OHVIRA syndrome) should be kept in the differential diagnosis in a young woman presenting with abdominal pain and lump with normal menstruation.
There is a potential association of müllerian duct anomalies with renal and skeletal abnormalities.
While evaluating the patient with müllerian anomalies, gynaecologist should investigate the patient for renal and skeletal abnormalities also.
Laparoscopy in patients with severe kyphoscoliosis is a challenge. Therefore, early diagnosis and treatment of OHVIRA syndrome (before the formation of haematometra and haematosalpinx) could eliminate the need of performing laparoscopy and diminish the risk of complications.
Footnotes
Contributors: MJ prepared the manuscript. CS helped in preparing manuscript, did proof reading. PS did proof reading. PK provided the MRI film and report.
Funding: The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests: None declared.
Patient consent for publication: Obtained.
Provenance and peer review: Not commissioned; externally peer reviewed.
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