Workup showed abnormal overnight dexamethasone suppression test (DST) (serum cortisol 21.5 μg/dL; normal < 1.8 μg/dL), elevated 24-hour urinary free cortisol (UFC) (728.9 μg/day; reference range 36.0–137.0 μg/day), and suppressed plasma adrenocorticotropic hormone (ACTH) (< 1.0 pg/mL), findings consistent with ACTH-independent CS. The gene discussed is POMC; the disease is Cowden syndrome 1.