Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency
Publication Date: September 27, 2018
Last Updated: July 25, 2023
Recommendations
Newborn screening
Cost-effectiveness
We recommend that all newborn screening programs incorporate screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1-M)
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We recommend that first-tier screens use 17-hydroxyprogesterone assays standardized to a common technology with norms stratified by gestational age. (1-M)
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.
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We recommend that screening laboratories employ a second-tier screen by liquid chromatography–tandem mass spectrometry in preference to all other methods (e.g., genotyping) to improve the positive predictive value of congenital adrenal hyperplasia screening. (1-L)
Technical remark: Laboratories utilizing liquid chromatography–tandem mass spectrometry should participate in an appropriate quality assurance program. Additionally, clinicians should realize that immunoassays lead to more false-positive results. Thus, if laboratory resources do not include liquid chromatography–tandem mass spectrometry, a cosyntropin stimulation test should be performed to confirm diagnosis prior to initiation of corticosteroid treatment.
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Title
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency