ArticleThe Journal of clinical endocrinology and metabolism2026
Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives' Drop-off in CAH Newborn Screening.
Article in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Genotype-refined 17OHP cut-offs diagnosing nonclassical CAH due to 21OH deficiency in children with premature pubarche.Journal of the Endocrine Society · 2026Article
- Early Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype.Journal of clinical medicine · 2026Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
contextThe main challenge in congenital adrenal hyperplasia newborn screening (NBS) is the high rate of false-positive results, emphasizing the need for specific serum confirmatory tests. Data on the effectiveness of serum 17-hydroxyprogesterone (17OHP) measurements using available methodologies remain limited.
objectivesTo evaluate the efficacy of confirmatory tests using measurements of serum steroids by radioimmunoassay (RIA) and liquid chromatography tandem mass spectrometry (LC-MS/MS) methodologies. DESIGN AND
settingA prospective longitudinal cohort study. PATIENTS: Data of 708 437 newborns (NBs) were evaluated.
methodsNeonatal-17OHP (N17OHP) results ≥ 2 × 99.5th were recalled for serum dosages by RIA (17OHP), by LC-MS/MS (17OHP, 21-deoxycortisol-21DF, androstenedione-Δ4, and cortisol) and positive predictive values (PPV) were determined. Altered hormonal results were submitted to CYP21A2 genotyping. Nonparametric tests and receiver operating characteristic (ROC)-curves were used.
resultsRecall rate of N17OHP (first tier) was 0.03% and serum 17OHP levels remained increased in 26% (RIA) and 11% (LC-MS/MS) of NBs, yielding PPV of 30% and 49%, respectively. Fifty-eight NBs were diagnosed with classical forms, and 32 asymptomatic NBs persisted with increased serum 17OHP levels. ROC-curves between false and true-positive tests disclosed highest diagnostic performance for 17OHP/LC-MS/MS [cutoff 48.3 ng/mL (146.3 nmol/L) = 100%-sensitivity]. The (17OHP+Δ4)/cortisol ratio presented the highest discriminative ability (cutoff 24.9 = 100%-PPV); serum 21DF presented a good performance and was comparable to 17OHP measured by LC-MS/MS (99%-specificity).
conclusionMeasurement of 17OHP by LC-MS/MS provides the best performance for serum confirmatory tests and may be complemented by the (17OHP+Δ4)/cortisol ratio analysis. Genotyping is useful mainly to resolve persistently indeterminate biochemical results.
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