WOFAPS 2025 8th World Congress of Pediatric Surgery

Julio César Moreno Alfonso ¹, María José Neira Morales ², Esther Comajuncosas Pérez ³, Catalina Fonseca Rejtman ², Isabella Garavis Montagut ², Ada Molina Caballero ³, Alberto Pérez Martínez ³

¹ Hospital Universitario de Navarra. Department of Pediatric Surgery. Doctoral School. Universidad Pública de Navarra (UPNA). Pamplona; Spain
² Universidad El Bosque. Medical Faculty. Bogotá; Colombia
³ Hospital Universitario de Navarra. Department of Pediatric Surgery. Pamplona; Spain

Introduction: Swyer syndrome, or pure 46 XY gonadal dysgenesis, is a rare genetic condition associated with a high risk of gonadal neoplastic degeneration. Our experience with over 3,000 transumbilical video-assisted appendectomies has allowed us to safely extrapolate this technique to other indications. We describe a novel minimally invasive surgical approach for managing an exceptional gonadal pathology.

Case presentation: An 8-year-old female patient with pure gonadal dysgenesis (46 XY) and a normal female phenotype, but without functional gonadal tissue, was diagnosed. Due to the high risk of gonadal malignancy, a bilateral gonadectomy was indicated. A 2 cm infraumbilical fold incision was made, extended in an omega shape, and a wound retractor ring was placed. A 10 mm, 0° endoscope with a 5 mm working channel was introduced to access the peritoneal cavity. Pneumoperitoneum integrity was ensured by adjusting the umbilical port diameter to the endoscope caliber using a continuous purse-string suture at the fascial level. Both gonads were identified, exteriorized through the umbilicus, and excised using bipolar coagulation. The peritoneal-muscular-aponeurotic layer was closed en bloc, and the umbilical incision was reconstructed with skin approximation using acrylic adhesive, resulting in an imperceptible scar. The postoperative course was uneventful, and the patient was discharged 24 hours after surgery. Histopathological analysis revealed a dysgerminoma in the right gonad and a gonadoblastoma in the left gonad. Twelve months postoperatively the patient remains asymptomatic with no evidence of recurrence. Consent was obtained from legal guardians.

Conclusion: Swyer syndrome is associated with a high risk of gonadal malignancy, necessitating timely intervention to prevent malignant progression. This case is particularly notable as one of the youngest patients described in the literature to undergo transumbilical video-assisted gonadectomy. This approach combines the advantages of conventional laparoscopy and open surgery, offering excellent aesthetic outcomes with a single umbilical scar.