WY Wong, LM Wong, KM Belaramani

Abstract

Congenital adrenal hyperplasia (CAH) is a rare group of inherited disorders of enzymes mediating adrenal steroidogenesis resulting in inadequate production of cortisol, aldosterone or both by the adrenal glands. Newborn screening for CAH using a dried blood spot sample to measure 17- hydroxyprogresterone (17-OHP) is employed for early detection of severe type of CAH. In this report, we describe a patient with classical CAH who had a normal newborn screening including second tier testing for CAH, but subsequently presented in salt-losing crisis at 1 month of age. Clinicians should not be falsely reassured by a negative newborn screening result, and they should proceed to diagnostic testing in clinical suspicious cases.