Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Phyllis Speiser(Hofstra University), Wiebke Arlt(University of Birmingham), Richard J. Auchus(University of Michigan), Laurence S. Baskin(University of California, San Francisco), Gerard S. Conway(Royal London Hospital), Deborah P. Merke(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Heino F. L. Meyer‐Bahlburg(Columbia University), Walter L. Miller(University of California, San Francisco), M. Hassan Murad(Mayo Clinic), Sharon E. Oberfield(Columbia University Irving Medical Center), Perrin C. White(The University of Texas Southwestern Medical Center)
The Journal of Clinical Endocrinology & Metabolism
September 27, 2018
10.1210/jc.2018-01865
Cited by 1,163Open Access
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Abstract

Newborn screening Cost-effectiveness 1.1 We recommend that all newborn screening programs incorporate screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1|s) 1.2 We recommend that first-tier screens use 17hydroxyprogesterone assays standardized to a common technology with norms stratified by gestational age. (1|s) Technical remark: Clinicians should be aware that immunoassays are still in use and remain a source of false-positive results. Specificity may be improved with organic extraction to remove cross-reacting substances. 1.3 We recommend that screening laboratories employ a second-tier screen by liquid chromatographytandem mass spectrometry in preference to all other

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