Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
Врожденная надпочечниковая гиперплазия вследствие дефицита стероидной 21-гидроксилазы: клиническое руководство Endocrine Society
2018-09-27
SCID: 54.1/2jn47r63
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17-hydroxyprogesterone assays21-hydroxylase deficiencycongenital adrenal hyperplasialiquid chromatography-tandem mass spectrometrynewborn screening
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Abstract (AI)
Objective: To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline
Key Findings
1
All newborn screening programs should include screening for congenital adrenal hyperplasia (21-hydroxylase deficiency).
2
Clinicians should be aware that immunoassays remain in use and can produce false-positive results; specificity may improve with organic extraction to remove cross-reacting substances.
3
First-tier screening should use 17-hydroxyprogesterone assays standardized to a common technology with norms stratified by gestational age.
4
Screening laboratories should employ a second-tier screen using liquid chromatography–tandem mass spectrometry (LC-MS/MS) in preference to other methods.
Research Object
Newborn screening programs for congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Research Subject
Recommendations for screening methods and protocols including use of 17-hydroxyprogesterone assays standardized by gestational-age norms and second-tier LC-MS/MS to improve specificity and cost-effectiveness
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2018-09-27
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