Primary Adrenal Insufficiency—Diagnosis and Management Challenges

We present the case of a child with mild axial hypotonia and episodes of persistent hyponatremia and hyperkalemia early in life, followed by an asymptomatic long period. During the present hospital admission, dysregulation of the adrenal gland function and detection of two missense variants in NR0B1 (nuclear receptor subfamily 0 group B member 1) gene state with high probability the diagnosis of congenital adrenal insufficiency. Management include substitution therapy and food supplementation with salt with good outcome.