Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points
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Le résumé fourni par la source
BACKGROUND/AIMS: Screening newborns for congenital adrenal hyperplasia (CAH) is problematic owing to the dynamic changes in serum 17-hydroxyprogesterone (17-OHP) levels following birth. Our study objectives were to determine the accuracy of screening, severity of CAH, and biochemical and clinical outcomes of cases detected by our program which collects specimens at 2 time periods following birth. METHODS: We reviewed all CAH cases detected in the Northwest Regional Newborn Screening Program from 2003 through 2017. Comparison was made of screening and confirmatory serum 17-OHP, neonatal, maternal, and follow-up auxologic data, steroid treatment doses, and 21-hydroxylase genotype in cases detected on the first versus second test. RESULTS: Out of 164 cases of CAH, 25% were detected on the second screen. Infants detected on the second test had a lower screening 17-OHP (147 vs. 294 ng/mL), lower confirmatory serum 17-OHP (7,772 vs. 14,622 ng/dL), and were more likely to have simple virilizing CAH. There were no identifiable neonatal or maternal factors associated with detection on the second test. 21-Hydroxylase genotypes overlapped in first versus second screen cases. CONCLUSION: Early collection of specimens necessitated by early discharge resulted in milder CAH cases falling below the screening 17-OHP cutoff. In our program 25% of cases were detected on a routine second screen.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points
- Date Crossref
- 01/01/2020
- Éditeur
- S. Karger AG
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Oregon Health & Science University pays non établi dans la noticeUniversité ou école supérieure
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Doernbecher Children's Hospital pays non établi dans la noticeÉtablissement de santé
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Oregon State Hospital pays non établi dans la noticeÉtablissement de santé
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Oregon Health and Science University Doernbecher Children's Hospital pays non établi dans la noticeUniversité ou école supérieure
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Oregon State Public Health Laboratory pays non établi dans la noticeStructure de recherche
Oregon Health & Science University, Doernbecher Children's Hospital et Oregon State Hospital, avec 2 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.