Genotype-refined 17OHP cut-offs diagnosing nonclassical CAH due to 21OH deficiency in children with premature pubarche
Nathalia Bordeira Chagas, Ayrton C Moreira, Margaret de Castro, Sonir R Antonini · 2026
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Description
Nathalia Bordeira Chagas and colleagues refined hormone cutoffs for nonclassical congenital adrenal hyperplasia in a 2026 diagnostic accuracy study of children with premature pubarche. Early pubic hair prompts endocrine testing, and 5 to 20 percent of such children carry 21-hydroxylase deficiency in its nonclassic form. The cohort held 203 children with median age 7.5 years, most of them girls, all receiving ACTH stimulation testing.
Genotyping of CYP21A2 served as the reference standard and confirmed the condition in 32 children. Basal 17-hydroxyprogesterone showed excellent discrimination, and genotype-based thresholds should reduce both missed cases and unnecessary follow-up testing. Clear cut points help staff spare most young kids long tests while still catching the few who need full care and close watch.
Catalog record
| CREATOR | Nathalia Bordeira Chagas, Ayrton C Moreira, Margaret de Castro, Sonir R Antonini |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 33858 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |