Acute appendicitis in a patient with obstructed hemivagina and ipsilateral renal anomaly syndrome: Diagnostic overshadowing in recurrent pelvic pain

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome, also referred to as Herlyn–Werner–Wunderlich syndrome, is a rare congenital disorder, with an estimated prevalence of 0.1%–3.8% among Müllerian anomalies.[] It is classically characterised by a triad of didelphic uterus, unilateral obstructed hemivagina and ipsilateral renal agenesis. The syndrome arises due to abnormal development and fusion of the paramesonephric (Müllerian) and mesonephric (Wolffian) ducts during embryogenesis.[] The obstructed hemivagina typically results in haematocolpos or haematometra post-menarche and is frequently associated with severe dysmenorrhoea and pelvic pain. OHVIRA syndrome is most commonly diagnosed in adolescent females following menarche, often after episodes of severe cyclical pain or when imaging is undertaken to investigate primary amenorrhoea or a pelvic mass. The treatment usually involves surgical resection of the obstructed vaginal septum and drainage of haematocolpos, with subsequent monitoring for endometriosis and fertility issues.[,] Chronic pelvic pain is a frequent long-term complication in these patients, particularly in the context of concurrent endometriosis, which may arise due to retrograde menstruation through the obstructed hemivagina. Consequently, these patients often remain under long-term gynaecological follow-up. However, the recurrence of pelvic pain in this cohort may lead to diagnostic overshadowing – a cognitive bias in which clinicians attribute all symptoms to the known diagnosis, thereby overlooking other potential pathologies. This case illustrates how such a bias can obscure the timely recognition of a common surgical condition – acute appendicitis – in a young female with a known rare gynaecological condition. CASE REPORT A 19-year-old female presented to the emergency department with a 24-h history of lower abdominal pain, localised predominantly in the right iliac fossa (RIF). The pain had started suddenly and progressively worsened. It was associated with nausea but no vomiting, anorexia or bowel or urinary symptoms. She denied any recent changes in her menstrual pattern. Her last period had been uneventful. The patient had a background diagnosis of OHVIRA syndrome, confirmed during adolescence following investigations for chronic dysmenorrhoea and pelvic fullness. Imaging had shown a didelphic uterus, left-sided renal agenesis and obstructed left hemivagina. She had undergone two previous surgeries for vaginal septum resection and laparoscopic treatment for associated endometriosis. She was currently stable on the oral contraceptive pill and under regular gynaecological review. Notably, she reported experiencing multiple prior episodes of right-sided pelvic pain over the years, often attributed by her GP and gynaecologists to her underlying syndrome or endometriosis, for which no additional investigations had been performed [Figure 1]. On examination, she was haemodynamically stable, afebrile and alert. Abdominal palpation revealed focal tenderness in the RIF with mild guarding. There was no rebound tenderness. A pelvic examination was deferred due to her discomfort and the lack of any overt gynaecological symptoms. Blood tests showed a white cell count of 18 × 109/L and a C-reactive protein of 87 mg/L. Her renal function and liver enzymes were within the normal limits [Table 1]. Given her elevated inflammatory markers and atypical history, a contrast-enhanced computed tomography (CT) of the abdomen and pelvis was obtained. The scan demonstrated an inflamed appendix in the pelvis with a faecolith, consistent with acute appendicitis. The report also raised the possibility of a small right ovarian cyst and a 3-cm pelvic collection. In light of her complex gynaecological background and imaging findings, the case was discussed with the on-call gynaecology team who agreed to be on standby in theatre in case concurrent pathology was encountered [Figure 2]. The patient was taken to theatre for a laparoscopic appendicectomy. Intraoperatively, the appendix was found in a pelvic position, inflamed, with signs of impending perforation and adherent to the right pelvic sidewall. Approximately 100 ml of seropurulent fluid was found in the pelvis. A didelphic uterus was noted, consistent with her known diagnosis. The ovaries appeared normal aside from a small, simple right ovarian cyst. No active endometriotic lesions were visualised. A standard laparoscopic appendicectomy was performed, and the pelvis was thoroughly irrigated. The patient recovered well postoperatively. She was treated with 24 h of intravenous antibiotics followed by a 5-day course of oral antibiotics. She was discharged the following day and made an uneventful recovery. Histopathology confirmed acute suppurative appendicitis with faecolith and early necrosis. At the follow-up, she expressed relief at having received a definitive diagnosis for her symptoms. She also reflected on her prior experiences, in which recurrent pelvic pain had been dismissed as part of her underlying condition, leading to delayed recognition of surgical causes.

The complexity of managing patients with rare congenital anomalies lies not only in treating the underlying condition but also in avoiding cognitive biases that may lead to misdiagnosis or delayed intervention. OHVIRA syndrome presents a particular challenge due to the chronic and often nonspecific nature of pelvic symptoms, which can mask or mimic other pathology. Appendicitis remains one of the most common causes of acute abdomen in young females, with a lifetime risk of approximately 7%.[,] Appendicitis is the most common surgical emergency, particularly in the adolescent and young adult population. However, its presentation can be atypical, especially when the appendix is located in a pelvic or retrocaecal position. In women, and especially in those with known gynaecological abnormalities, differentiating appendicitis from gynaecological causes of pelvic pain – including ovarian cysts, torsion or endometriosis – can be challenging. In this context, the clinician must be cautious not to attribute all symptoms to the underlying diagnosis without adequate investigation.[,] Diagnostic overshadowing is a well-described phenomenon in clinical medicine. While it has often been discussed in relation to mental health and disability, it is equally relevant in rare congenital syndromes. Patients with known rare disorders may experience delays in the diagnosis of common conditions simply because their symptoms are attributed to the known rare condition.[] In this case, the patient had several prior episodes of pelvic pain that were never formally investigated with imaging or surgical evaluation, owing to an assumption that the pain was secondary to her OHVIRA syndrome and endometriosis. Had this episode also been dismissed, the patient might have progressed to full perforation and sepsis. Her story is a reminder that common conditions still occur in patients with rare disorders. Imaging played a vital role in establishing the diagnosis. While ultrasound is often the first-line imaging modality in young women with pelvic pain, CT is more sensitive for appendicitis, particularly in anatomically challenging cases or when a pelvic location is suspected. In this patient, the use of CT was crucial due to the elevated inflammatory markers and the diagnostic ambiguity posed by her history. A multidisciplinary approach was central to her care. Early discussion with gynaecology ensured that potential coexistent pathology would not be missed intraoperatively. It also ensured the patient felt heard and understood and that her complex medical background was acknowledged without limiting diagnostic possibilities.

This case highlights the need for diagnostic vigilance in patients with rare gynaecological conditions such as OHVIRA syndrome. The presence of a complex congenital anomaly should not exclude more common pathologies such as appendicitis. Clinicians must avoid diagnostic overshadowing and anchoring bias, ensuring that recurrent or acute symptoms are thoroughly assessed with appropriate imaging and multidisciplinary input. Early recognition and intervention in this case prevented perforation and led to a good outcome. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that the name and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

1 Fiechter J, Feki A, Egger B, Chilcott M. Herlyn-Werner-Wunderlich syndrome in a young female mimicking acute appendicitis. Br J Surg 2022;109 Suppl 3: 1362 Saleh A, Alrashid M, Al Hindi S. Acute abdomen: Unusual presentation of Herlyn-Werner Wunderlich syndrome. Int J Surg Case Rep 2021;82:1059113 Gündüz R, Ağaçayak E, Evsen MS. OHVIRA syndrome presenting with acute abdomen findings treated with minimally invasive method: Three case reports. Acta Chir Belg 2022;122:275–84 Chapagain A, Paudel K, Mani Pokhrel S, Prasad Sapkota R. Obstructed hemivagina and ipsilateral renal agenesis syndrome: A case report. J Nepal Med Assoc 2022;60:562–45 Bhoil R, Ahluwalia A, Chauhan N. Herlyn Werner Wunderlich syndrome with hematocolpos: An unusual case report of full diagnostic approach and treatment. Int J Fertil Steril 2016;10:136. [doi: 10.22074/ijfs.2016.4779]6 Sidhu HS, Madaan PK. Herlyn-Werner-Wunderlich syndrome in a multiparous female. BJR Case Rep 2021;7:1657 Cheong YL, Laksmi NK. Herlyn-Werner-Wunderlich syndrome: Case report of a newborn presenting with interlabial cyst. Proc Singap Healthc 2019;28:131–48 Orazi C, Lucchetti MC, Schingo PM, Marchetti P, Ferro F. Herlyn-Werner-Wunderlich syndrome: Uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases. Pediatr Radiol 2007;37:657–659 Gungor Ugurlucan F, Bastu E, Gulsen G, Kurek Eken M, Akhan SE. OHVIRA syndrome presenting with acute abdomen: A case report and review of the literature. Clin Imaging 2014;38:357-910 Malarazhagan V, Veerasingham M, Sivanesan K. Right-sided obstructed hemivagina ipsilateral renal agenesis (OHVIRA): A case report. Case Rep Womens Health 2020;26:e00185