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Sub-Category:

Ectopic Hormone Secretion Syndromes

Number of Conditions: 1

Ectopic ACTH Syndrome

Specialty: Diabetes and Endocrinology

Category: Rare Endocrine Disorders

Sub-category: Ectopic Hormone Secretion Syndromes

Symptoms:
weight gain; muscle weakness; high blood pressure; hyperglycemia; bruising; thin skin; osteoporosis; mood changes; round face (moon facies); abdominal striae (stretch marks)

Root Cause:
Abnormal secretion of adrenocorticotropic hormone (ACTH) by non-pituitary tumors, leading to excessive cortisol production. Commonly associated with small cell lung cancer or other neuroendocrine tumors.

How it's Diagnosed: videos
Laboratory tests to measure ACTH and cortisol levels, high-dose dexamethasone suppression test, imaging studies (CT, MRI, PET scans) to identify the tumor source, and inferior petrosal sinus sampling to differentiate ectopic from pituitary ACTH production.

Treatment:
Surgical removal of the ACTH-secreting tumor, medical therapy to control cortisol levels, radiation therapy, and/or chemotherapy if surgery is not feasible.

Medications:
Medications to manage cortisol levels include metyrapone (steroidogenesis inhibitor), ketoconazole (antifungal with cortisol-lowering effects), or mitotane (adrenolytic agent). In severe cases, mifepristone (glucocorticoid receptor antagonist) may be used to block cortisol effects.

Prevalence: How common the health condition is within a specific population.
Rare, occurring in approximately 10–20% of cases of Cushing syndrome.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Presence of certain cancers (e.g., small cell lung cancer, pancreatic neuroendocrine tumors), genetic predisposition to endocrine tumors.

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the underlying tumor type, stage, and response to treatment. Early diagnosis and tumor removal significantly improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Long-term hypercortisolism can lead to cardiovascular disease, diabetes, infections, osteoporosis, and psychological disorders.