Hipoaldosteronismo primario e hipoacusia bilateral moderada en un nino con una mutacion sin sentido en homocigosis (Thr318Met) en el gen CYP11B2

Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic saltwasting syndrome during infancy. Aldosterone synthase deficiency due to mutations in CYP11B2 is the underlying cause in most cases. Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been