Virilizing Adrenocortical Carcinoma in a Child: Diagnostic Pitfalls and Unfavorable Outcome

Pediatric adrenocortical carcinoma (ACC) is a rare malignant tumor often presenting with virilization. Its initial hormonal profile can deceptively mimic congenital adrenal hyperplasia (CAH), potentially leading to diagnostic delay. We report the case of a 6-year-old girl presenting with heterosexual pseudoprecocious puberty and clitoromegaly progressing since the age of 4 years. Initial hormonal evaluation suggested 21-hydroxylase deficiency, erroneously leading to a CAH diagnosis. The discovery of an abdominal mass on clinical examination prompted imaging, which revealed a large left adrenal tumor measuring 134 × 79 mm. Surgical resection confirmed ACC. Postoperative staging demonstrated pulmonary metastases (Children's Oncology Group stage IV). Despite multimodal management including surgery, mitotane, polychemotherapy, and pembrolizumab immunotherapy as last-line treatment, disease progression occurred. The outcome was unfavorable, with death occurring approximately 2 years after diagnosis. This case highlights that in any child presenting with virilization, early adrenal imaging is mandatory before therapeutic decisions are made. The prognosis of ACC remains poor despite well-conducted therapeutic protocols. This approach is essential to avoid diagnostic delay.