In fact, blood tests revealed hyponatremia (132 mg/dL, r.v. 135 - 145 mg/dL), low cortisol (4 μg/L, r.v. 9 - 23 μg/L), and elevated adrenocorticotropic hormone (ACTH) levels (437 pg/mL, r.v. 5 - 55 pg/mL), which confirmed the diagnosis of primary adrenal insufficiency. The gene discussed is POMC; the disease is Adrenal insufficiency.