Salt-Wasting Form of Congenital Adrenal Hyperplasia: A Case Report

Abstract

Congenital adrenal hyperplasia (CAH) is a set of autosomal recessive disorders characterized by enzyme abnormalities in the adrenal steroidogenesis pathway, which cause impaired cortisol biosynthesis. Glucocorticoid, mineralocorticoid, and sex steroid production can all be altered in individuals, necessitating hormone replacement therapy. The symptoms might range from prenatal salt loss and abnormal genitalia to adult hirsutism and irregular menses. We present the case of a girl who presented with a seizure initially at the age of three months. Laboratory results revealed hypoglycemia, hyponatremia, and hyperkalemia with increased renin activity, increased adrenocorticotropic hormone (ACTH), low aldosterone, low cortisol, high dehydroepiandrosterone sulfate (DHEAS), and high 17 hydroxyprogesterone levels. Imaging findings were normal. The patient was managed with hydrocortisone and fludrocortisone. She is currently on regular follow-up and is doing well with dexamethasone therapy.