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Ectopic ACTH syndrome

B L Wajchenberg1, B Mendonça, B Liberman

  • 1Endocrine Service, Hospital das Clínicas, University of São Paulo School of Medicine, Brazil.

The Journal of Steroid Biochemistry and Molecular Biology
|June 1, 1995
PubMed
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Ectopic ACTH syndrome involves tumors producing excess ACTH precursors, often neuroendocrine. Inferior petrosal sinus sampling is key for diagnosing this condition, especially when the tumor source is occult.

Area of Science:

  • Endocrinology
  • Oncology
  • Biochemistry

Background:

  • Ectopic ACTH syndrome results from tumors aberrantly processing proopiomelanocortin (POMC) to overproduce ACTH.
  • Tumors range from highly malignant to slow-growing carcinoids.
  • Clinical presentation can mimic pituitary-dependent Cushing's disease.

Purpose of the Study:

  • To analyze clinical features, biochemical abnormalities, and diagnostic methods for ectopic ACTH syndrome.
  • To evaluate tumor markers and imaging for localization.
  • To review the diagnosis and management of occult ectopic ACTH syndrome.

Main Methods:

  • Analysis of clinical features, biochemical data (ACTH, cortisol, steroids).
  • Dynamic endocrine testing (dexamethasone suppression, metyrapone, oCRH stimulation).

Related Experiment Videos

  • Inferior petrosal sinus ACTH sampling, tumor marker analysis, and imaging (CT, MRI, somatostatin receptor scintigraphy).

    • Main Results:

    • Elevated ACTH precursors were uniformly present; other markers included calcitonin, gut hormones, etc.
    • Neuroendocrine markers (NSE, chromogranins) were useful for APUD tumors.
    • Inferior petrosal sinus sampling after oCRH confirmed diagnosis in >90% of cases.
    • Occult tumors were frequently thoracic carcinoids (60%), small cell lung cancer, or pancreatic neuroendocrine tumors.

    Conclusions:

    • Ectopic ACTH syndrome diagnosis relies on integrated clinical, biochemical, and imaging data.
    • Inferior petrosal sinus sampling is crucial for differentiating ectopic ACTH from pituitary sources.
    • Thoracic carcinoids and small cell lung cancer are common causes of occult ectopic ACTH syndrome.