Endocrinological assessment confirmed Cushing's syndrome, supported by markedly elevated midnight serum cortisol (65.2 μg/dL), plasma ACTH (862.7 pg/mL), and 24-hour urinary free cortisol (3330 μg/day) (Table 1). The gene discussed is POMC; the disease is Cushing syndrome due to macronodular adrenal hyperplasia.