Lei Zhang
Chunhua Dong3,4
Cuihua Yang- 1Department of Minimally Invasive Urological Surgery, Children’s Hospital Affiliated to Shandong University, Jinan, China
- 2Department of Minimally Invasive Urological Surgery, Jinan Children's Hospital, Jinan, China
- 3Department of Radiology, Children's Hospital Affiliated to Shandong University, Jinan, China
- 4Department of Radiology, Jinan Children's Hospital, Jinan, China
- 5Department of Ultrasound, Children's Hospital Affiliated to Shandong University, Jinan, China
- 6Department of Ultrasound, Jinan Children's Hospital, Jinan, China
Background: Bilateral ovarian fibromas in children are exceedingly rare. Their coexistence with congenital anomalies of the kidney and urinary tract (CAKUT) has not been reported.
Case presentation: An 11-year-old girl presented with abdominal pain and lifelong urinary dribbling. Imaging revealed bilateral ovarian masses and a left duplex collecting system with a dilated upper-pole ureter inserting ectopically into the posterior urethra. Serum tumor markers including CA125 were within normal limits. No ascites or peritoneal deposits were identified. Laparoscopic bilateral tumor excision preserved normal ovarian tissue; histopathology confirmed ovarian fibromas with low proliferative index. Three months later, laparoscopic excision of the ectopic distal ureteral segment and ipsilateral ureteroureterostomy completely resolved urinary symptoms. Trio whole-exome sequencing identified heterozygous variants in SUFU (p.Asp182Asn) and FN1 (p.Asn649Ile), both inherited from unaffected parents. At 12-month follow-up, the patient had spontaneous menarche with preserved ovarian function.
Conclusions: This unprecedented dual genitourinary presentation expands the clinical spectrum of pediatric ovarian fibromas. Combined SUFU and FN1 variants suggest possible shared mesodermal developmental susceptibility. Fertility-preserving surgery combined with staged urologic reconstruction achieved full functional recovery.
1 Introduction
Ovarian fibromas constitute approximately 4% of ovarian neoplasms in adults but are exceptionally rare in children, with bilateral presentation being even more unusual (1, 2). When bilateral fibromas occur in pediatric patients, they often suggest an underlying tumor predisposition syndrome such as Gorlin syndrome, which is associated with pathogenic variants in PTCH1 or SUFU (3, 4). Congenital anomalies of the kidney and urinary tract (CAKUT), including duplex collecting systems and ectopic ureters, are common in pediatric urology (5). Ectopic ureters draining poorly functioning upper moieties can present with continuous dribbling in girls without typical urinary tract symptoms (6). Single-system ectopic ureters represent a special subset with often delayed diagnosis due to associated renal dysplasia (7). To our knowledge, the coexistence of bilateral ovarian fibromas with CAKUT has not been previously reported.
We present an 11-year-old girl with bilateral ovarian fibromas coinciding with duplex collecting system and ectopic ureter. This case is unique because it represents the first reported dual genitourinary presentation combining a rare pediatric ovarian tumor with congenital urinary tract anomaly, potentially linked through shared mesodermal developmental pathways. We describe the clinical presentation, fertility-preserving surgical management, histopathology, and genomic analysis.
2 Case description
2.1 Patient information
An 11-year-old Chinese girl presented with 3 months of intermittent cramp-like lower abdominal pain occurring every few days and lasting several minutes. She had no fever, vomiting, or dysuria. Since infancy, she had experienced continuous urinary dribbling between normal voiding episodes, occasionally accompanied by nocturnal enuresis. Multiple courses of acupuncture had been attempted without improvement. She had no history of urinary tract infection, hematuria, or trauma. Growth and neurodevelopment were normal. There was no family history of ovarian tumors, basal cell carcinomas, medulloblastoma, or other features suggestive of Gorlin syndrome. Perinatal history was unremarkable.
2.2 Clinical findings
Physical examination revealed a well-appearing afebrile child with mild lower abdominal tenderness and no palpable mass. Abdominal examination showed no distension, shifting dullness, or fluid wave suggestive of ascites. External genitalia were normal with Tanner stage I development, and there were no signs of virilization (hirsutism, clitoromegaly, or acne). A tiny orifice near the posterior urethra suggested an ectopic ureteral opening.
2.3 Diagnostic assessment
Laboratory evaluation included serum tumor markers and hormonal assessment. Serum CA125 was 18.2 U/mL (normal <35 U/ml), AFP was 2.1 ng/ml (normal <10 ng/ml), and β-hCG was <0.1 mIU/ml (normal <5 mIU/ml). Sex hormone panel revealed prepubertal levels: estradiol 12 pg/ml, testosterone 8 ng/dl (normal prepubertal <20 ng/dl), FSH 3.2 mIU/ml, and LH 1.8 mIU/ml. These findings excluded hormone-secreting tumors such as fibrothecoma or other sex cord-stromal tumors with endocrine activity.
Pelvic MRI and MR urography revealed bilateral solid ovarian masses and a left duplex collecting system with complete ureteral duplication. The anatomical configuration consisted of two separate renal moieties within a single renal fossa, each with its own ureter: the lower-pole ureter inserted orthotopically into the bladder trigone, while the upper-pole ureter was markedly dilated (approximately 16 mm diameter), coursing caudally and inserting ectopically into the posterior urethra. The upper moiety showed hydronephrosis with cortical thinning; the lower moiety appeared preserved. No peritoneal implants or free fluid were identified (Figures 1A,B). Voiding cystourethrography showed no vesicoureteral reflux. Renal scintigraphy (DMSA) confirmed minimal function (8%) in the left upper moiety, supporting the decision for ureteral reconstruction rather than upper-pole nephrectomy.
Figure 1. Preoperative imaging findings. (A) Contrast-enhanced pelvic computed tomography demonstrating bilateral solid adnexal masses (red arrows) with scattered calcifications. (B) Coronal T2-weighted magnetic resonance urography showing bilateral ovarian masses and a duplex left collecting system with hydronephrosis of the upper moiety. The markedly dilated upper-pole ureter (approximately 16 mm diameter) courses caudally toward an ectopic insertion into the posterior urethra.
2.4 Therapeutic intervention
On May 9, 2023, diagnostic cystoscopy followed by laparoscopic bilateral ovarian tumor resection was performed. Cystoscopy demonstrated normal orthotopic ureteral orifices and a pinpoint ectopic orifice on the posterior urethral wall with intermittent urine efflux, confirming the suspected ectopic ureteral opening. Laparoscopy confirmed bilateral enlarged ovaries with firm, nodular surfaces. Inspection of the peritoneal cavity revealed no ascites, peritoneal deposits, or omental involvement. The left duplex ureter was immediately apparent, with the upper branch markedly dilated. Both tumors were completely excised while preserving maximal normal ovarian tissue (Figures 2A–C).
Figure 2. Laparoscopic fertility-preserving surgical management. (A) Laparoscopic view showing bilateral enlarged ovaries with firm, nodular surfaces. (B) Sharp and bipolar-assisted dissection of the tumor capsule from the residual ovarian cortex. (C) Post-excision appearance demonstrating preserved ovarian parenchyma with interrupted absorbable suture reconstruction.
Intraoperative frozen section suggested spindle-cell stromal tumor consistent with ovarian fibroma. Final histopathology confirmed bilateral ovarian fibromas with focal calcification, composed of interlacing bundles of bland spindle cells within collagen-rich stroma. Immunohistochemistry showed diffuse vimentin positivity, focal SMA and inhibin-α positivity, cytoplasmic β-catenin staining, and Ki-67 index 3%–5%, supporting benign sex cord–stromal tumor without thecal or luteinized components (Figures 3A–C).
Figure 3. Pathological findings of ovarian fibromas. (A) Gross specimen showing multiple nodular tumor fragments with smooth, tan-white, fibrous cut surfaces and focal calcifications. (B) Hematoxylin and eosin staining demonstrating densely packed spindle cells arranged in interlacing fascicles within collagen-rich stroma. (C) Ki-67 immunohistochemistry showing low proliferative index (3%–5%), consistent with benign sex cord–stromal tumor.
Three months later (August 30, 2023), the patient underwent staged urologic reconstruction via laparoscopy. The surgical procedure consisted of: (1) mobilization and identification of the dilated ectopic upper-pole ureter; (2) excision of the distal ectopic ureteral segment including its insertion into the posterior urethra; (3) spatulation of the transected upper-pole ureter; (4) end-to-side ureteroureterostomy anastomosing the upper-pole ureter to the ipsilateral normally-draining lower-pole ureter using interrupted 5-0 absorbable sutures; and (5) antegrade placement of a 4.7 Fr double-J ureteral stent across the anastomosis. This approach preserved the functioning lower moiety while redirecting upper-pole drainage through the normal ureteral pathway, eliminating the ectopic insertion responsible for urinary incontinence. The postoperative course was uneventful.
2.5 Follow-up and outcomes
Urine dribbling resolved completely following ureteroureterostomy. Follow-up ultrasonography five months later (January 2024) showed stable mild hydronephrosis without progression. At 12-month follow-up (May 2024), the patient had spontaneous menarche, indicating preserved ovarian function. No tumor recurrence was observed. The clinical course is summarized in Table 1.
Table 1. Timeline of the patient's clinical course.
2.6 Genetic findings
Trio whole-exome sequencing using peripheral blood samples identified two heterozygous variants of uncertain significance (VUS) in genes involved in embryonic development and extracellular-matrix regulation (Table 2).
Table 2. Genetic variants identified by trio whole-exome sequencing.
The SUFU missense variant c.544G>A (p.Asp182Asn), inherited from the phenotypically normal father, alters a highly conserved residue within the suppressor domain. This variant is absent from gnomAD (allele frequency <0.0001) and is predicted disease-causing by MutationTaster (REVEL score 0.82). Structural modeling predicted local conformational disturbance that may compromise SUFU's regulatory function in the Sonic Hedgehog pathway (Supplementary Figure S1) (8, 9).
The second variant, c.1946A>T (p.Asn649Ile) in FN1, was inherited from the phenotypically normal mother. This variant affects a residue in the fibronectin type III domain, is rare in gnomAD (allele frequency 0.00004), and is predicted pathogenic by PolyPhen-2 (score 0.958) and SIFT (deleterious). Neither parent nor the patient's four-year-old sister showed clinical features. Given that both variants regulate mesodermal differentiation, multilocus genomic variation may underlie this combined ovarian–renal phenotype (10).
3 Discussion
This case documents an unprecedented association of bilateral ovarian fibromas with duplex collecting system and ectopic ureter in a child. The clinical presentation, comprehensive imaging, histopathology, and genetic analysis provide insights into potential shared developmental mechanisms.
Bilateral ovarian fibromas in children are rare and often prompt evaluation for tumor predisposition syndromes such as Gorlin syndrome (3, 4). Our patient's heterozygous SUFU variant (p.Asp182Asn), though classified as VUS, affects a highly conserved residue. Pathogenic SUFU variants cause Gorlin syndrome, characterized by medulloblastoma, basal cell carcinomas, and bilateral ovarian fibromas (8, 9). However, our patient lacks other Gorlin features, and her father (variant carrier) remains asymptomatic, suggesting incomplete penetrance.
The FN1 variant adds complexity. Fibronectin is essential for mesodermal tissue organization and morphogenesis (11, 12). During embryonic development, both the urogenital ridge (giving rise to kidneys, ureters, and gonads) and gonadal stromal tissues derive from intermediate mesoderm, sharing common developmental origins (13, 14). Combined SUFU (affecting stromal proliferation) and FN1 (affecting extracellular matrix) variants may act synergistically, contributing to this dual phenotype (10).
The staged surgical approach—fertility-preserving ovarian tumor excision followed by ureteroureterostomy—achieved excellent functional outcomes. Management of pediatric ovarian masses emphasizes preservation of normal tissue whenever feasible, as most lesions are benign (15). Risk stratification for malignancy guides surgical planning (16), and minimally invasive approaches including single-incision techniques have demonstrated excellent outcomes (17). Our patient's spontaneous menarche at 12 months demonstrates successful ovarian preservation.
3.1 Strengths and limitations
Strengths of this case include comprehensive multimodal evaluation integrating advanced imaging, detailed histopathology, and trio whole-exome sequencing, along with excellent clinical outcomes with documented functional recovery. Limitations include the VUS classification of both variants without functional validation, the single-case design precluding causal inference, and limited long-term follow-up for tumor recurrence risk assessment.
4 Patient perspective
The patient's mother reported: “Our daughter had been troubled by urinary leakage since birth. We tried many treatments including acupuncture without success. When she developed abdominal pain, we were worried. The doctors explained that she had both ovarian tumors and a urinary problem, which was very rare. After two surgeries, her leakage completely stopped and she has been doing well. She recently had her first period, which reassured us that the ovarian surgery was successful. We are grateful for the careful surgical approach that preserved her fertility”.
5 Conclusion
We report the first case of bilateral ovarian fibromas coexisting with duplex collecting system and ectopic ureter in a child. Identified SUFU and FN1 variants suggest a possible mesodermal developmental link. Laparoscopic fertility-preserving tumor excision combined with staged reconstructive urologic surgery achieved full functional recovery. This case highlights the need for integrated surgical–genetic assessment and lifelong follow-up in children presenting with concurrent reproductive and urinary anomalies.
Data availability statement
The original contributions presented in the study are included in the article/Supplementary Material, further inquiries can be directed to the corresponding author.
Ethics statement
The studies involving humans were approved by Ethics Committee of Jinan Children's Hospital, Shandong University. The studies were conducted in accordance with the local legislation and institutional requirements. Written informed consent for participation in this study was provided by the participants' legal guardians/next of kin. Written informed consent was obtained from the individual(s), and minor(s)' legal guardian/next of kin, for the publication of any potentially identifiable images or data included in this article.
Author contributions
LZ: Visualization, Writing – original draft, Investigation, Data curation, Methodology, Writing – review & editing, Conceptualization. CD: Investigation, Data curation, Writing – original draft. CY: Writing – original draft, Investigation, Data curation. MG: Conceptualization, Supervision, Writing – review & editing.
Funding
The author(s) declared that financial support was not received for this work and/or its publication.
Acknowledgments
The authors thank the patient and her family for their cooperation. We acknowledge the use of AI-assisted tools for language editing; all clinical data and conclusions are entirely the work of the authors.
Conflict of interest
The author(s) declared that this work was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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Supplementary material
The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fped.2026.1765709/full#supplementary-material
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Keywords: CAKUT, duplex collecting system, ectopic ureter, FN1, ovarian fibroma, pediatric case report, SUFU
Citation: Zhang L, Dong C, Yang C and Gui M (2026) Bilateral ovarian fibromas with duplex collecting system and ectopic ureter in an 11-year-old girl: a case report with genetic analysis. Front. Pediatr. 14:1765709. doi: 10.3389/fped.2026.1765709
Received: 11 December 2025; Revised: 11 January 2026;
Accepted: 15 January 2026;
Published: 3 February 2026.
Edited by:
Cristian Roberto Sager, Garrahan Hospital, ArgentinaReviewed by:
Madhumitha J., Panimalar Medical College Hospital and Research Institute, IndiaAmel Ibrahim, University of Khartoum, Sudan
Copyright: © 2026 Zhang, Dong, Yang and Gui. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Meng Gui, NzI0MzQ0MzkyQHFxLmNvbQ==