An atypical case of ectopic ACTH syndrome in an adolescent b
Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is exceedingly rare in children and scarcely reported. Pancreatic neuroendocrine tumours (NETs) can rarely lead to secretion of ectopic ACTH. A 14-year-old boy presented with hyperpigmentation, hypertension and intermittent abdominal pain, and was diagnosed with endogenous hypercortisolism. An incidental pancreatic mass discovered on routine ultrasonogram (USG) revealed the source of ACTH. He underwent successful excision of the mass with resolution of hypercortisolism. The histopathology revealed a Pancreatic NET and immunohistochemistry was positive for ACTH stain.

Peculiar and extraordinary features in this case were severe biochemical hypercortisolism in the patient without any Cushing stigmata. It was hypothesized that the anabolism due to high IGF1 levels during puberty, the extremely rapid onset of disease, and/or the underlying malignancy lead to masking of features of Cushing syndrome.

Pancreatic NET as a source of ectopic ACTH secretion is an extremely rare entity, especially in pediatric population. However, the possibility of EAS should be considered in individuals with ACTH-dependent Cushing’s syndrome even in the absence of extremely increased plasma ACTH concentrations. The broad clinical spectrum of EAS in children may mimic Cushing disease.