Abstract
Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated. Additionally, an ACTH assay with a low cross-reactivity for precursors showed low concentrations of ACTH. Immunohistochemistry suggested POMC but not ACTH production by the tumour. We describe a yolk sac tumour as a novel source of ectopic POMC production leading to CS in a young girl.
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