Primary Pigmented Nodular Adrenocortical Disease: A Rare Condition of Cushing's Syndrome

Purpose (a): Cushing’s syndrome (CS) in uncommon in children and may be either ACTH dependent or independent. The most common cause of CS is exogenous administration of glucocorticoids. We present an unusual case of ACTH-independent CS in a 14-1/2 year old Caucasian male. Methods (b): A 14-1/2 year old Caucasian male was referred for accelerated weight gain, which first became apparent at 8 years of age. In the past 2 years he gained ~50 pounds, during which time he reported intermittent fatigue, vague abdominal pain, and pain in his lower back. There was no history of muscle weakness, hypertension or diabetes. Diurnal cortisol and ACTH levels, 24-hour urinary free cortisol, and overnight 0.5 mg dexamethasone suppression studies were performed. To further determine the etiology of Cushing’s syndrome and localize the source of excess glucocorticoids production, additional studies were performed. Results (c): There was no suppression of adrenal steroids following 2 days of high dose dexamethasone. CT scan showed a slight nodular adrenal contour bilaterally. Further workup was consistent with primary pigmented nodular adrenal disease (PPNAD) without evidence of Carney Complex. A bilateral adrenalectomy was performed and the patient maintained on oral adrenal hormone replacement therapy. Conclusions (d): PPNAD accounts for only 2% of ACTH-independent CS. Absence of adrenal suppression following high dose dexamethasone and nodular changes of the adrenal with CT scanning aid in the clinical suspicion of PPNAD. Bilateral adrenalectomy is the treatment of choice and, in the absence of Carney complex, should be curative.