THREE CASES OF DENYS-DRASH SYNDROME WITH GONADOBLASTOMA

Abstract

Denys-Drash syndrome (DDS) is characterized by rapidly progressing nephropathy, Disorders of Sex development, and Wilms tumor. Gonadal removal is recommended owing to the increased risk of developing gonadal tumors; however, the optimal timing remains uncertain. Herein, we report three cases with gonadoblastoma discovered in excised gonads. Case 1 involves a 13-year-old girl for whom peritoneal dialysis (PD) was initiated at 6 months of age. The left gonad removal at 9 months revealed hypoplastic testicular tissue. At 2 years and 8 months, kidney transplantation and bilateral nephrectomy were performed. A living kidney transplant was received at the age of 10 years. Subsequently, virilization signs and right gonadal swelling led to a diagnosis of gonadoblastoma during right gonadectomy at 13 years and 7 months. Case 2 involves a 6-year-old girl for whom PD was initiated 1 month after birth. Left nephrectomy was performed at 1 years and 11 months, followed by right nephrectomy at 5 years and 4 months. At the age of 6 years and 1 months, living kidney transplantation and simultaneous right gonadectomy revealed gonadoblastoma with a dysgerminoma component, without metastasis. Left gonadectomy 3 months post-transplantation revealed testis pathology. Case 3: involves a 4-year-old girl for whom PD was initiated 9 days after birth. Bilateral nephrectomy was performed at 1 year of age. Bilateral gonadectomy at 4 years and 5 months revealed bilateral ovotestis with a left gonadoblastoma component. While gonadoblastoma has limited malignant findings, it serves as the precursor of highly malignant gonadal tumors, highlighting the importance of timely excision. In DDS cases, determining the optimal timing for gonadectomy remains complex owing to variations in nephropathy progression. The priority given to PD initiation and Wilms' tumor prevention further complicates excision timing. Notably, the case of dysgerminoma in our 6-year-old patient appears to be one of the youngest cases in the literature.