hrp0098p3-9 | Adrenals and HPA Axis | ESPE2024

Early Diagnosis and Management of Aldosterone Synthase Deficiency in Infancy: A Case Report

Mihai Pascu Bogdan , Stan Emanuela

Aldosterone synthase deficiency (ASD) is a rare cause of hyponatremia, commonly found in infancy and if diagnosed early it has a good prognosis. ASD has been classified into 2 types, type 1, which is the rarest form, and type 2. Patients with ASD usually present with salt-wasting, insufficient release of potassium in the urine and failure to thrive in early infancy. This paper reports on one ASD case of a 6-week-old female who presented with a salt-wasting crisis, hyperkalemia...