Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen.
21-hydroxylase deficiency
genotyping
non-classical congenital adrenal hyperplasia
second newborn screen
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
01 Sep 2023
01 Sep 2023
Historique:
received:
26
06
2023
revised:
22
08
2023
accepted:
29
08
2023
medline:
27
9
2023
pubmed:
27
9
2023
entrez:
27
9
2023
Statut:
epublish
Résumé
Screening for congenital adrenal hyperplasia (CAH) remains heterogenous across geographies-we sought to determine the proportion of non-classical CAH (NCAH) detection by one vs. two newborn screens (NBS) in two U.S. regions. Data were collected at tertiary centers in Houston (HOU) and Los Angeles (LA) on 35 patients with NCAH, comparing patients identified via the NBS vs. during childhood, 17-hydroxyprogesterone (17-OHP) levels, genotype, and phenotype. The NBS filter-paper 17-OHP levels and daily cutoffs were recorded on initial and second screens. In all, 53% of patients with NCAH in the HOU cohort were identified as infants via the second NBS. Patients identified clinically later in childhood presented at a similar age (HOU:
Identifiants
pubmed: 37754776
pii: ijns9030050
doi: 10.3390/ijns9030050
pmc: PMC10531884
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : NICHD NIH HHS
ID : K23 HD084735
Pays : United States
Organisme : NICHD NIH HHS
ID : R03 HD101718
Pays : United States
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