Herlyn-Werner-Wunderlich Syndrome: A Rare Triad of Müllerian and Renal Anomaly

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Herlyn-Werner-Wunderlich Syndrome: A Rare Triad of Müllerian and Renal Anomaly

Herlyn-Werner-Wunderlich (HWW) syndrome, also referred to as Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA), is a rare congenital disorder characterized by a unique triad: uterine didelphys (complete duplication of the uterus and cervix), obstructed hemivagina (often presenting as hematocolpos), and ipsilateral renal agenesis. Though rare, timely diagnosis is crucial to prevent long-term complications like endometriosis, infertility, and infection.

1. Etiology and Pathogenesis

Herlyn-Werner-Wunderlich syndrome results from abnormal development and fusion of the Müllerian (paramesonephric) ducts during embryogenesis. Normally, these ducts fuse in the midline to form the uterus, cervix, and upper two-thirds of the vagina, while the Wolffian (mesonephric) ducts contribute to kidney and ureteral development.

In HWW syndrome:

  • One Müllerian duct fails to fuse or canalize properly.

  • A longitudinal vaginal septum forms, causing unilateral vaginal obstruction.

  • The ipsilateral Wolffian duct also fails to develop, leading to renal agenesis on the same side as the vaginal obstruction.

This embryological correlation between the urinary and reproductive tracts explains the synchronous appearance of urogenital anomalies.

2. Epidemiology

HWW syndrome is exceedingly rare, with an estimated incidence of 0.1%–3.8% among all Müllerian anomalies. It typically manifests after menarche, when retained menstrual blood accumulates in the obstructed hemivagina. Most patients present during adolescence or early adulthood.

3. Clinical Presentation

Common symptoms include:

  • Cyclical pelvic pain after menarche

  • Abnormal or prolonged menstruation

  • Pelvic mass

  • Dysmenorrhea

  • Rarely, urinary tract infection or difficulty with tampon use

In many cases, symptoms begin shortly after menarche, and a delay in diagnosis may lead to retrograde menstruation, hematosalpinx, and endometriosis.

4. Imaging Features

Cross-sectional imaging is critical for diagnosis, and contrast-enhanced CT and MRI are the modalities of choice.

Imaging Findings from the Case:

🖼️ Figure 1. Axial contrast-enhanced portal venous phase

Duplication of the uterus and cervix is evident. The left hemivagina is distended with fluid-like density (hematocolpos), while the right hemivagina appears collapsed.

🖼️ Figure 2. Coronal contrast-enhanced portal venous phase

Clear delineation of uterine duplication and left-sided vaginal obstruction. No enhancement of renal tissue on the left, indicating left renal agenesis.

🖼️ Figure 3. Sagittal contrast-enhanced portal venous phase

Fluid-filled distension along the vagina confirms hematocolpos. Cervical duplication is visible.

🖼️ Figure 4. Coronal pelvis contrast-enhanced view

The longitudinal vaginal septum is inferred from unilateral obstruction.

🖼️ Figure 5. Sagittal pelvis contrast-enhanced view

Reinforces the previous findings. A fluid-filled left hemivagina compresses surrounding structures.

🖼️ Figure 6. Axial pelvis contrast-enhanced view

Absence of the left kidney with associated uterovaginal anomaly on the same side.

5. Differential Diagnosis

  • Transverse vaginal septum

  • Imperforate hymen

  • Uterus didelphys without obstruction

  • Cervical agenesis

What distinguishes HWW syndrome is the triad of obstructed hemivagina, uterine duplication, and ipsilateral renal agenesis.

6. Treatment

Definitive treatment:

  • Surgical resection of the vaginal septum: This allows drainage and prevents recurrent hematocolpos and endometriosis.

Adjunct considerations:

  • Preoperative imaging to assess renal anatomy

  • Hysteroscopic guidance during septum resection

  • Follow-up imaging to monitor for complications

Timely surgical intervention yields excellent outcomes and preserves fertility.

7. Prognosis

With early diagnosis and treatment, patients usually have normal sexual function and reproductive outcomes. Delayed intervention, however, can lead to infertility, chronic pelvic pain, and endometriosis. There is no increased risk of malignancy associated with HWW syndrome.

🧠 Quiz Questions

❓ Q1: What are the three core features of Herlyn-Werner-Wunderlich syndrome?

  • A) Uterine duplication, imperforate hymen, bilateral renal agenesis

  • B) Vaginal obstruction, uterus bicornis, normal kidneys

  • C) Uterine didelphys, obstructed hemivagina, ipsilateral renal agenesis

  • D) Septate uterus, transverse vaginal septum, normal kidneys

❓ Q2: Which embryologic structures are primarily responsible for HWW syndrome?

  • A) Rathke’s pouch and neural crest

  • B) Müllerian and Wolffian ducts

  • C) Mesoderm and ectoderm

  • D) Cloacal membrane and mesonephros

❓ Q3: Which imaging modality provides the most detailed anatomic information for diagnosing HWW syndrome?

  • A) Plain radiography

  • B) Ultrasound

  • C) MRI

  • D) PET-CT

❓ Q4: A 14-year-old girl presents with cyclical pelvic pain. Imaging shows uterine duplication, fluid-filled hemivagina, and left renal agenesis. What is the most likely diagnosis?

  • A) Uterus bicornis

  • B) Imperforate hymen

  • C) Herlyn-Werner-Wunderlich syndrome

  • D) Vaginal agenesis

Answer & Explanation

1. Answer: C. Explanation: HWW syndrome is defined by uterine didelphys, an obstructed hemivagina, and renal agenesis on the same side.

2.  Answer: B. Explanation: The Müllerian ducts form the female reproductive tract, while the Wolffian ducts contribute to the urinary system. Maldevelopment of both results in HWW syndrome.

3. Answer: C. Explanation: MRI offers superior soft tissue contrast and delineates uterovaginal structures and renal anomalies with high precision.

4. Answer: C. Explanation: This is a classic presentation of HWW syndrome involving the characteristic triad.

References

[1] A. Orazi, R. Lucchetti, C. Schingo, G. Marchetti, and C. Ferro, “Herlyn–Werner–Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis,” Ultrasound Obstet Gynecol, vol. 10, no. 3, pp. 239–240, 1997.

[2] H. Smith and C. Jones, “MRI in diagnosis of Müllerian anomalies,” Radiol Clin North Am, vol. 41, no. 4, pp. 769–790, 2003.

[3] S. Fedele, D. Motta, L. Frontino, P. Restelli, and G. Bianchi, “Double uterus with obstructed hemivagina and ipsilateral renal agenesis: diagnosis and treatment,” Fertil Steril, vol. 83, no. 3, pp. 756–758, 2005.

[4] T. Zhu, J. Tang, and L. Li, “Surgical treatment of Herlyn-Werner-Wunderlich syndrome: a retrospective study,” Medicine (Baltimore), vol. 94, no. 1, e324, 2015.

[5] H. Heinonen, “Complete septate uterus with longitudinal vaginal septum and obstructed hemivagina: a report of 21 cases,” Am J Obstet Gynecol, vol. 180, no. 5, pp. 1216–1223, 1999.

[6] G. Gholoum, S. Puligandla, L. Hui, and J. Laberge, “Management and outcome of Herlyn–Werner–Wunderlich syndrome,” J Pediatr Surg, vol. 41, no. 5, pp. 987–992, 2006.

[7] J. Rock and J. Thompson, “TeLinde’s Operative Gynecology,” 11th ed., Lippincott Williams & Wilkins, 2015.

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