CASE REPORT
Diagnostic and therapeutic challenges in ectopic Cushing’s syndrome without detectable tumour focus – a case report
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1
Student's Scientific Society at the Department of Endocrinology and Neuroendocrine Tumors, Department of Pathophysiology and Endocrinology of the Silesian Medical University in Zabrze, Medical University, Katowice, Poland
2
Department of Endocrinology and Neuroendocrine Tumours, Department of Pathophysiology and Endocrinology, Faculty of Medical Sciences, Zabrze, Poland
These authors had equal contribution to this work
Corresponding author
Karolina Patrycja Sas
Student's Scientific Society at the Department of Endocrinology and Neuroendocrine Tumors, Department of Pathophysiology and Endocrinology of the Silesian Medical University in Zabrze,
Medical University of Silesia in Katowice, 35 Ceglana St., 40-514 Katowice, Poland
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ABSTRACT
Ectopic adrenocorticotropin (ACTH) secretion is a rare cause of Cushing’s syndrome, often posing a diagnostic challenge,
particularly when the source of excessive ACTH secretion cannot be localized. The case is presented of a 70-year-old woman
with Cushing’s syndrome caused by ectopic ACTH secretion from an elusive location. Despite extensive imaging (CT, MRI,
PET/CT with 68Ga-DOTATATE), no tumour site could be identified. Metyrapone led to normalization of cortisol and ACTH
levels and a two-year remission. After a recurrence of hypercortisolaemia, osilodrostat therapy was initiated, achieving
renewed hormonal and clinical stabilization. This case highlights the importance of pharmacotherapy with steroidogenesis
inhibitors as an effective alternative to surgery in patients with an unlocalized source of ectopic ACTH secretion, and the
need for long-term endocrine follow-up.
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