CS was suspected, and the baseline hormonal evaluation confirmed ACTH-dependent hypercortisolemia: positive corticotropin-releasing hormone (CRH) stimulation test, anterior pituitary lesion measuring 3 × 2.5 × 2 mm visualized in MRI, and positive bilateral inferior petrosal sinus sampling combined with CRH stimulation were compatible with CD. The gene discussed is POMC; the disease is Cowden syndrome 1.