Abstract
This presentation discusses newborn screening for congenital adrenal hyperplasia (CAH) which is available in most developed countries. Early detection and hormone replacement prevents the progression of salt-wasting adrenal crises that can become life-threatening in the first two weeks of life. Screening by 17-hydroxyprogesterone immunoassay is sensitive for salt-wasting disease but confounded by poor specificity in premature and ill neonates. The use of liquid chromatography tandem mass spectrometry as a second-tier test offers improvements to screening through improved analytical specificity which reduces the number of false positive tests.
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