Table of Contents

HK J Paediatr (New Series)
Vol 25. No. 1, 2020

HK J Paediatr (New Series) 2020;25:49-52

Case Report

Newborn Screening Pitfalls: A Missed Case of Salt-losing Type of Congenital Adrenal Hyperplasia

WY Wong, LM Wong, KM Belaramani


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.

Keyword : Congenital adrenal hyperplasia; Missed screening case; Newborn screening

Abstract in Chinese


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