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Case Study 187: Cushing’s Disease

Cushing’s disease is a specific form of Cushing’s syndrome caused by a pituitary adenoma that secretes excess adrenocorticotropic hormone (ACTH) — driving the adrenal glands to produce excess cortisol.

📊 Facts & Figures:
• Cushing’s disease accounts for 60–70% of endogenous Cushing’s syndrome cases.
• It is 3–5 times more common in women, especially between the ages of 20–40.
• Average tumor size is 5 mm, often invisible on MRI — making diagnosis challenging.
• Median diagnostic delay is 2–5 years due to subtle, overlapping symptoms.

🩺 Symptoms include:
• Central weight gain, moon face, dorsocervical fat pad (“buffalo hump”)
• Hypertension, glucose intolerance/diabetes, hirsutism, muscle weakness
• Menstrual irregularities, mood swings, osteoporosis, and skin fragility (purple striae, bruising)

🧪 Diagnosis involves:
• 1 mg low-dose dexamethasone suppression test
• 24-hour urinary free cortisol
• Late-night salivary cortisol
• If ACTH is elevated, pituitary MRI and Inferior Petrosal Sinus Sampling (IPSS) help localize the source.

🔪 Treatment: First-line is transsphenoidal surgery to remove the adenoma.
• Long-term remission rates: 65–85% after initial surgery
• Recurrence rate: up to 20–25% over time
• For persistent disease: radiation, medical therapy (e.g., ketoconazole, mifepristone), or bilateral adrenalectomy

💡 Why it matters:
Left untreated, chronic cortisol elevation increases cardiovascular mortality, worsens mental health, and severely impacts quality of life. But early diagnosis and expert surgical care can lead to remission and recovery.

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