Adrenocortical Tumors in Pediatrics beyond the Classic Presentation: A Case Series

Adrenocortical tumors (ACTs) are rare pediatric malignancies, typically presenting with signs of virilization or hypercortisolism. However, nonclassical presentations may delay diagnosis and complicate management. Our study aimed to illustrate the diagnostic and therapeutic challenges posed by atypical forms of pediatric ACTs through a series of five diverse clinical cases.

We report five cases of pediatric ACTs with unusual features: bilateral tumors, acute stroke due to hypertensive crisis, incidental discovery after trauma, misleading hormonal workup, or gradual onset of premature pubarche, and hemorrhagic lesion. In two cases, the diagnosis was delayed due to initial absence of endocrine evaluation. One patient experienced tumor rupture following biopsy, leading to metastasis and death despite intensive treatment. Histopathological scoring (Wieneke score) was heterogeneous and did not always correlate with outcome. Two patients had underlying cancer predisposition syndromes (Li-Fraumeni and Beckwith-Wiedemann).

This case series highlights the wide phenotypic variability of pediatric ACTs, which may mimic benign or unrelated conditions. Early recognition, systematic hormonal evaluation, and avoidance of biopsy are critical for improving prognosis. Multidisciplinary management is essential, and genetic screening should be systematically considered, even in the absence of suggestive personal or familial history.