hrp0098p3-273 | Late Breaking | ESPE2024

A rare cause of acute salt wasting crisis in infancy: Case report of Type 1 aldosterone synthase deficiency with CYP11B2 mutation

Yee Chan Ka , Ming Wong Lap

Background: Aldosterone is a steroid hormone synthesized in the zona glomerulosa of the adrenal cortex. It is important for homeostasis of plasma sodium and potassium levels. Isolated aldosterone synthase deficiency can result in acute salt-losing crisis, severe hyperkalemia, metabolic acidosis, and failure to thrive.Case presentation: An 18-day-old boy, born to consanguineous parents, presented to our hospital for failu...