OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia

ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia is an obsolete Orphanet classification (Orphanet code 189424) that previously grouped together conditions in which both adrenal glands become enlarged and overproduce cortisol independently of pituitary ACTH stimulation. This category encompassed several distinct entities, including ACTH-independent macronodular adrenal hyperplasia (AIMAH, also known as bilateral macronodular adrenal hyperplasia or BMAH) and primary pigmented nodular adrenocortical disease (PPNAD), which is often associated with Carney complex. These conditions lead to endogenous hypercortisolism (Cushing syndrome) with symptoms such as central obesity, moon facies, skin thinning and easy bruising, purple striae, proximal muscle weakness, hypertension, glucose intolerance or diabetes, osteoporosis, and mood disturbances. Because this entry is now obsolete, patients and clinicians are directed to the more specific disease classifications under which these conditions are currently categorized. BMAH (now often linked to mutations in ARMC5 and other genes) and PPNAD (associated with PRKAR1A mutations in Carney complex) have distinct genetic underpinnings, ages of onset, and clinical courses. Treatment typically involves surgical management, most commonly bilateral adrenalectomy for severe or progressive disease, along with medical therapy to control cortisol excess (such as steroidogenesis inhibitors) when surgery is not immediately feasible. Lifelong glucocorticoid and mineralocorticoid replacement therapy is required following bilateral adrenalectomy. Patients should be referred to the updated Orphanet entries for BMAH or PPNAD for the most current clinical and genetic information.

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