OHVIRA syndrome (Obstructed Hemivagina and Ipsilateral Renal Anomaly) and Gartner duct cyst (GDC) are rare congenital anomalies of the genitourinary system, both arising from abnormalities in the Müllerian and/or Wolffian ducts (1–3). OHVIRA syndrome typically presents with an obstructed hemivagina, uterine anomalies, and ipsilateral renal agenesis. GDCs are remnants of the Wolffian duct that develop in the anterolateral vaginal wall and may extend toward the posterior aspect of the bladder (4). Notably, approximately 10% of GDCs are associated with renal agenesis or dysplasia, which is often accompanied by an ectopic ureter (4, 5). Such ectopic ureters are also commonly observed in OHVIRA syndrome (3). Therefore, when both conditions are associated with an ectopic ureter, overlapping imaging features may lead to significant diagnostic challenges.

We describe two prepubertal girls who were referred to our tertiary hospital for evaluation and management, presented one month apart (Supplementary Table S1). These cases highlight the diagnostic complexities in distinguishing these two anomalies and underscore the importance of imaging analysis supported by a multidisciplinary approach for appropriate management. Written informed consent was obtained from the patients and their families for publication of these cases.

GDC with an ectopic ureter results from the failure of the terminal ureteric bud to separate from the mesonephric duct, preventing proper fusion with the primitive bladder and leading to ectopic insertion into the GDC (5). In OHVIRA syndrome, abnormal development of the mesonephric duct disrupts Müllerian duct fusion, causing the ureter to open into the ipsilateral obstructed hemivagina (1, 3). This embryologic overlap contributes to the imaging and clinical similarities between OHVIRA and GDC, which, especially when accompanied by renal dysplasia and ectopic ureter, pose significant challenges for preoperative diagnosis. Therefore, these overlapping imaging features emphasize the need for comprehensive imaging and a multidisciplinary approach for accurate differentiation in prepubertal patients.

Both cases were asymptomatic until treatment, whereas adolescents or adults may experience cyclic abdominal pain, urinary symptoms (e.g., infections or incontinence), or uterine bleeding (6, 7). Detailed imaging, including CT, MRI, and ultrasound, played a critical role in identifying key features of each condition. However, even with advanced imaging, intraoperative exploration was necessary to accurately diagnose the cysts and determine the proper course of treatment. In Case 1, imaging and ultrasound failed to identify uterus didelphys, leading to an uncertainty in the preoperative diagnosis. Laparoscopy and vaginoscopy ultimately confirmed the diagnosis of OHVIRA syndrome.

Case 2 had a similar clinical history and imaging findings to Case 1, initially suggesting OHVIRA syndrome. Intraoperative exploration revealed that the cyst originated from the paravaginal area, further complicating the diagnosis. Possible diagnoses included a blind-ended ectopic ureterocele, obstructed hemivaginal protrusion, Gartner duct cyst, or other mesonephric (Wolffian) duct derivatives (5, 8). However, further evaluation was needed to confirm the exact diagnosis.

Vaginoscopy identified only one cervix, and laparoscopy confirmed a single uterine body, ruling out OHVIRA syndrome. Ectopic ureteroceles are typically located distal to the trigone, inserting into the bladder neck, urethra, or other pelvic areas, often presenting with urinary incontinence depending on the function of the ipsilateral kidney (9). However, the blind-ended cyst in this case did not align with these features. Cystoscopy showed no right hemitrigone, ureteral orifice, intravesical ureterocele, or ectopic ureter opening into the urethra. Exploration of the cyst cavity revealed a wide ureteral opening at the proximal end without compression signs, ruling out this diagnosis as well. GDCs can extend alongside anterolateral vaginal wall from the proximal bladder to the perineal vestibule—consistent with this case's presentation. Unfortunately, histopathological analysis was not performed, which could have helped differentiate the cyst's origin, specifically whether it was a mesonephric or Müllerian derivative. Mesonephric (Wolffian) cysts typically consist of cuboidal or low columnar cells, whereas Müllerian derivatives are characterized by stratified squamous epithelium (2).

However, the appropriate timing of surgical intervention in OHVIRA and GDC cases remains controversial (10). OHVIRA in prepubertal patients is often discovered incidentally, whereas adolescents may present with cyclic pain, hematocolpos, or infections following menstruation (1). Treatment is typically recommended at puberty to alleviate symptoms and prevent complications such as endometriosis or infertility (11). Jang Hee Han et al. (3) reported 43 prepubertal OHVIRA cases, with six symptomatic patients undergoing vaginal septum resection and three undergoing nephrectomy for ectopic multicystic dysplastic kidney. The remaining cases did not routinely undergo septum resection due to insufficient evidence. Carmen Capito et al. (12) retrospectively studied eight prepubertal OHVIRA cases, with seven undergoing septum and dysplastic kidney resection, though symptom status was not specified. In our case, we performed transvaginal septal resection and nephrectomy safely.

For GDC, conservative management is recommended for asymptomatic cases, while excision or marsupialization is indicated for symptomatic cases with compression or infections. Sida Niu et al. (2) used fluorescein dye for complete GDC resection, while Sandra L. Emmons et al. (13) advised against resection if intact removal was not feasible, suggesting marsupialization or sclerotherapy instead. In our case, considering the patient's young age and the potential local trauma associated with complete GDC excision, a partial cyst wall resection was performed. Despite imaging suggesting renal agenesis, an ectopic ureter opening into the GDC was identified, prompting excision of the dysplastic kidney.

This study did not confirm whether the fluid in the GDC or OHVIRA cavities was urine, nor were contrast studies performed to delineate the ectopic ureteral course or identify its precise openings. Histopathological examination was also not conducted to distinguish the cyst origin (mesonephric vs. Müllerian). Moreover, the small uterine size typical of prepubertal girls limited the visualization of uterine duplication on imaging. As a result, intraoperative findings played a pivotal role in establishing the final diagnosis. Future studies incorporating histopathological confirmation, imaging enhancements, and extended follow-up are warranted to strengthen diagnostic accuracy and evaluate long-term outcomes.

The overlapping embryologic origins and imaging features of OHVIRA syndrome with ectopic ureter and GDC with ectopic ureter and renal dysplasia pose significant diagnostic challenges. These cases highlight the need for careful clinical evaluation, detailed imaging, and a multidisciplinary approach for accurate differentiation and appropriate intervention. For asymptomatic cases, the benefits of prepubertal surgical treatment require long-term follow-up to assess outcomes and potential complication.