Occasionally, gynecologists encounter patients with diagnoses that fall outside the realm of conditions routinely seen in a clinic setting. One such condition, Herlyn-Werner-Wunderlich syndrome (HWW), occurs in an estimated 0.1 percent to 3.8 percent of the general population.
Left untreated, HWW may result in complications such as endometriosis caused by retrograde menstruation, pelvic adhesions and infections. And while as many as 80 percent of patients are able to become pregnant, untreated HWW increases a woman's risk for infertility and miscarriage.
The exact cause of this condition remains unknown, but OB/GYNs must still be prepared to rule out HWW when patients present with suspicious symptoms.
Understanding Herlyn-Werner-Wunderlich Syndrome
HWW is a type of congenital Müllerian duct abnormality. It is extremely rare, and presents as a triad of urogenital malformations, including uterine didelphys, obstructed hemivagina and ipsilateral renal agenesis.
The condition often begins to affect female patients at puberty, or during early adolescence after the onset of menarche. Until menarche occurs, HWW is typically asymptomatic. When symptoms do develop, they are usually nonspecific and abdominal or gynecological in nature.
According to a review published in Childhood Kidney Diseases, the typical initial symptoms of HWW include:
- Dysmenorrhea.
- Lower abdominal pain.
- Palpable pelvic masses.
- Pelvic pain.
Pain in the abdomen or pelvis may progress as the products of normal menstruation collect in an obstructed hemivagina with no available outlet. In these cases, any palpable pelvic masses may increase in size over time. Patients may seek help from an OB/GYN sooner if they experience painful symptoms related to hematocolpos.
Using Ultrasound to Diagnose Herlyn-Werner-Wunderlich Syndrome
Gynecologists should begin their examination with a pelvic exam and, in some cases, blood work to rule out complications like infection. These procedures should be followed by imaging to determine the extent of any malformations within the abdominal cavity.
Typical radiographic features of HWW include:
- Absent kidney on the same side as the uterovaginal obstruction.
- Duplication of the uterus, cervix and vagina.
- Gartner's duct cysts.
- Unilateral hematocolpos or hematometrocolpos.
Patients presenting with symptoms suggesting HWW should be undergoing an ultrasound exam. Ultrasound, especially 3D ultrasound, remains the gold standard for the initial evaluation of gynecological malformations. Compared to MRI or CT scan, ultrasound's sensitivity and specificity approach 100 percent when used to diagnose congenital uterine abnormalities. Ultrasound is also cost-effective and readily available at most OB/GYN clinics.
Abdominal 3D ultrasound is particularly useful for confirming or identifying that a patient has only one kidney, typically on the contralateral side. Additionally, images taken through the abdomen should easily differentiate two uterine bodies.
Complications like hematocolpos, which frequently occur when the vaginal septum is complete, may be indicated on pelvic ultrasound scans. According to one study published in BMC Medical Imaging, this complication appears as a collection of fluid with low-level echoes, and can make diagnosing didelphic uterus easier.
Abdominal ultrasound findings may prompt further evaluation using transvaginal ultrasound. This technique may help clinicians definitively diagnose uterine didelphys and provide them with further information about pelvic masses, according to a case report published in Obstetrics and Gynecology Science. However, the presence of hematocolpos may distort transvaginal ultrasound images, making further evaluation with other imaging modalities like MRI necessary.
Using Ultrasound to Monitor Other Organs
Renal abnormalities are common both ipsilateral and contralateral to any vaginal obstructions occurring with HWW. In some cases, a solitary kidney or multicystic dysplastic kidney (MCDK) is present on prenatal ultrasound. This finding is suggestive of HWW, and indicates a patient should be monitored over time.
In many cases, the ipsilateral kidney is simply missing. The contralateral kidney may appear dysplastic or polycystic; as many as 50 percent of patients affected by HWW present with contralateral renal abnormalities.
In patients with a solitary functioning kidney, kidney enlargement is a possible complication as the organ works harder to compensate. According to the hyperfiltration theory, women with one kidney are at a higher risk for developing conditions such as hypertension, proteinuria and chronic kidney disease.
Patients diagnosed with Herlyn-Werner-Wunderlich syndrome should receive frequent monitoring from a gynaecologist and/or other specialists, like a urologist. Regular ultrasound may quickly show anatomical changes to the remaining kidney, which may be indicative of glomerular damage. If such changes are detected, physicians may implement treatments to prevent further damage and maintain organ function.
Herlyn-Werner-Wunderlich Syndrome Treatment
Early detection of HWW, using ultrasound and further imaging studies if necessary, is essential for providing treatment that ensures symptom relief. Prompt treatment helps to preserve patients' fertility and reduce the risk of complications such as endometriosis.
Currently, treatment standards for HWW include resection of the existing vaginal septum to alleviate symptoms resulting from hematocolpos. Usually, surgery is not considered emergent unless the collection of menstruation products results in an infection.
If it becomes necessary, surgery is often postponed until after the patient reaches puberty. When deciding on this treatment course, physicians may recommend gonadotropin-releasing hormone analogs to maintain amenorrhea, prevent further accumulation of hematocolpos and reduce the risk of complications.
In patients with HWW and complications such as endometriosis, laparoscopic surgery is often the treatment of choice. This technique allows for the removal of endometriotic lesions and the release of any pelvic adhesions related to retrograde menstruation originating in the obstructed hemivagina. In some cases, laparoscopic surgery is considered therapeutic, since surgeons can use this technique to drain existing hematocolpos and relieve pain caused by the build-up of menstruation products. Laparoscopy may also be useful for further evaluation when initial ultrasound exams are inconclusive.
Discussing Fertility with Herlyn-Werner-Wunderlich Syndrome Patients
Fortunately, prompt treatment helps preserve fertility in the majority of patients diagnosed with HWW. As noted in the Obstetrics and Gynecology Science case report, one retrospective study of 36 patients over a 30-year period showed that 87 percent had successful pregnancies. However, women should be cautioned that preterm delivery is common, and that in many cases caesarean section is required to maintain both maternal and infant health.
Even though HWW is rare, gynecologists should still familiarize themselves with the condition. HWW commonly causes nonspecific symptoms, but physicians can use imaging techniques, specifically 3D ultrasound, to begin their evaluation process. If HWW is diagnosed, ultrasound continues to provide valuable information about complications, additional organ damage and outcomes related to surgical procedures.
