ALDOSTERONE SYNTHASE DEFICIENCY: A CASE REPORT

Aldosterone synthase deficiency is a rare genetic disorder causing congenital hypoaldosteronism. We report a 6-month-old male infant presenting with failure to thrive and motor developmental delay.Investigations revealed severe hyponatremia,hyperkalemia,metabolic acidosis,normal cortisol and 17-hydroxyprogesterone levels.Notably, his low aldosterone level, low 18 hydroxycorticosterone level, and high plasma renin activity were suggestive of aldosterone synthase deficiency. Genetic analysis confirmed the diagnosis.Treatment with fludrocortisone replacement and sodium supplementation normalized electrolyte levels. On subsequent follow up, the infant demonstrated remarkable improvement with fludrocortisone maintenance therapy,exhibiting catch up weight gain and achieving age appropriate developmental milestones.