Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report

Adrenocortical carcinoma (ACC) is an exceedingly rare malignancy in children, typically presenting with Cushing's syndrome due to excessive hormone secretion. The occurrence of uric acid nephrolithiasis in pediatric ACC patients is exceptionally uncommon.

We report the case of a 5-year-old boy who exhibited symptoms of Cushing's syndrome over a period of 10 months, including rapid weight gain, moon face, and increased chest and back hair growth. Laboratory tests revealed elevated cortisol, 17-hydroxyprogesterone, and testosterone levels. Imaging studies identified a 6.6 × 5.6 cm mass in the left adrenal gland, which was confirmed as ACC through biopsy and immunohistochemistry. One day prior to the scheduled adrenalectomy, the patient developed renal colic due to multiple kidney stones, as evidenced by emergency CT scans showing bilateral nephrolithiasis and a stone in the left upper ureter with mild hydronephrosis. Postoperatively, the patient spontaneously expelled brick-red uric acid stones. With glucocorticoid replacement therapy, his hormonal levels and clinical symptoms normalized within a year. A four-year follow-up revealed no recurrence of ACC or urolithiasis, and his hormonal parameters remained within normal ranges.

This case highlights the rare association between ACC and uric acid nephrolithiasis in children. The spontaneous passage of uric acid stones provides insights into the link between stone formation and metabolic disorders, emphasizing the need for comprehensive endocrine and metabolic assessments in pediatric ACC management.