Expanded Steroid Profiling Identifies Novel Newborn Screening Markers for Congenital Adrenal Hyperplasia
Authors' conclusion
The 11-oxygenated steroids are the most sensitive markers in dried bloodspots in the newborn period. Steroid profiling suggests that androgen excess in CAH in the newborn period is via several interconnected metabolic routes.
Study context
- Population
- Newborns screened for classic congenital adrenal hyperplasia (CAH); residual newborn screening (NBS) dried bloodspot specimens
- Participants
- 43 / 11 / 389
- Comparison
- CAH vs false-positive (FP) screening results
- True-positive (TP)n = 43
- False-negative (FN)n = 11
- FPn = 389reference
- Outcome
- Novel sensitive and specific NBS markers for CAH from expanded steroid profiling
- Follow-up
- Newborn period
Methodological detailsLC-MS/MS measurement of 41 steroids, residual NBS dried bloodspot specimens, Mann-Whitney analysis to distinguish CAH from FP specimens
- LC-MS/MS measurement of 41 steroids
- Residual NBS dried bloodspot specimens
- Mann-Whitney analysis to distinguish CAH from FP specimens
Performance
As reported in the abstract
Steroid markers distinguishing CAH (TP and FN) from FP specimens
- Novel 11-oxygenated steroid markers higher in TP and FN samples vs FP; most informative for screening
- Seven
- 21-deoxycortisone (most sensitive and specific marker) elevated in CAH cases
- 52 of 53
Further findings
Method performance
- Sufficiently precise and accurate for all steroids; less sensitive for mineralocorticoid pathway steroids
Original publication
Expanded Steroid Profiling Identifies Novel Newborn Screening Markers for Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. Published 14 July 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →