Congenital Adrenal Hyperplasia Presenting as Life Threatening Hyponatremic Dehydration: A Tale of Missed Diagnosis

Abstract

Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders that occur due to defects in steroid synthesis. It is characterised by a deficiency of adrenocortical hormones and an excess of steroid precursors. A deficiency of 21-hydroxylase is the most common type, constituting 90% of the cases. The authors hereby, report a case of a one-month-old baby who presented to the Paediatric Emergency Department with typical features of the salt-wasting form of CAH. The diagnosis was confirmed with elevated levels of 17-hydroxyprogesterone and a Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) gene mutation. The child was managed with hydrocortisone, fludrocortisone and salt supplementation, along with symptomatic and supportive care. The child is still under regular follow-up and is doing well.

Keywords

• autosomal recessive disorder
• 21-hydroxylase
• 17-hydroxyprogesterone