ArticleBMC endocrine disorders2026
Ectopic ACTH syndrome caused by pheochromocytoma: diagnostic challenges and surgical outcomes in two cases.
Article in BMC endocrine disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundEctopic adrenocorticotropic hormone (ACTH) syndrome is a rare form of ACTH-dependent Cushing syndrome, most commonly caused by neuroendocrine tumors. Pheochromocytoma is a rare source of ectopic ACTH secretion. Its clinical presentation is often heterogeneous and may lack the typical features of Cushing syndrome, which can lead to delayed diagnosis or misdiagnosis. Increased awareness of this rare entity is essential for early diagnosis and appropriate management. CASE PRESENTATION: We report two cases of ectopic ACTH syndrome caused by pheochromocytoma. Both patients presented with refractory hypertension and hypokalemia, and one patient developed symptoms during pregnancy with atypical clinical manifestations. Laboratory evaluation revealed markedly elevated ACTH and cortisol levels with loss of circadian rhythm, accompanied by varying degrees of catecholamine excess. Imaging studies demonstrated adrenal masses, while pituitary imaging and investigations for other potential ectopic ACTH sources were unremarkable. Both patients underwent robot-assisted laparoscopic adrenalectomy. Postoperative histopathological examination and immunohistochemistry confirmed the diagnosis of pheochromocytoma with focal ACTH positivity. During follow-up, ACTH and cortisol levels decreased rapidly, serum potassium levels and blood pressure improved significantly, and no tumor recurrence was observed.
conclusionAlthough ectopic ACTH syndrome caused by pheochromocytoma is rare, it should be considered in patients presenting with refractory hypertension, hypokalemia, and ACTH-dependent Cushing syndrome. Comprehensive endocrine evaluation and accurate imaging localization are crucial for preoperative diagnosis and treatment planning, while definitive diagnosis relies on postoperative histopathological examination and immunohistochemistry. Surgical resection remains an effective definitive treatment, leading to marked improvement in hormonal abnormalities and clinical symptoms. CLINICAL TRIAL NUMBER: Not applicable.
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