Chris J Zhang, Robert Stein, Maha Saleh, Peter Wang, Natashia Seemann, Funmbi Babalola
JCEM Case Reports, Volume 3, Issue 8, August 2025, luaf155
https://doi.org/10.1210/jcemcr/luaf155
Primary pigmented nodular adrenocortical disease is a rare cause of Cushing syndrome accounting for less than 1% of cases. We present a 9-year-old boy who presented at age 4 with cyclical Cushing syndrome and was eventually diagnosed with a novel, previously unreported, unpublished variant in PRKAR1A associated with Carney complex. He was treated with unilateral left adrenalectomy. At 1-year follow-up, he continues to be in remission of his symptoms of Cushing syndrome.
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