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Delayed Diagnosis of Ectopic Cushing Syndrome
Brooke C Matson1, Joshua M Evron1, Steven M Johnson2
1Department of Medicine, Division of Endocrinology and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599-7170, USA.
JCEM Case Reports
|March 5, 2024
Summary
Ectopic adrenocorticotropin (ACTH) syndrome was misdiagnosed until a nephrologist identified symptoms. Surgical resection of a lung lesion led to a cure, emphasizing the need for broader provider awareness.
Area of Science:
- Endocrinology
- Nephrology
- Oncology
Background:
- Ectopic adrenocorticotropin (ACTH) syndrome, a rare cause of Cushing syndrome, often presents with nonspecific symptoms leading to diagnostic delays.
- Early recognition and diagnosis are crucial for effective management and improved patient outcomes.
Observation:
- A 40-year-old man with unrecognized ectopic ACTH syndrome presented with edema and weight gain.
- Initial evaluations by multiple providers missed the diagnosis, which was ultimately suspected by a nephrologist.
Findings:
- Screening tests for hypercortisolism, including dexamethasone suppression testing and 24-hour urinary free cortisol, were positive.
- Plasma ACTH levels confirmed ACTH-dependent Cushing syndrome; further testing suggested an ectopic source.
- Imaging revealed a lung lesion, which upon resection, confirmed ectopic ACTH production and resulted in surgical cure.
Implications:
- This case underscores the importance of recognizing subtle signs of hypercortisolism beyond typical endocrine presentations.
- Enhanced education for nonendocrine providers on screening for Cushing syndrome is essential to reduce diagnostic delays.
- Prompt diagnosis and surgical intervention for ectopic ACTH syndrome can lead to complete remission.
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