Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns
Authors' conclusion
Basal serum 21DE appears to be a novel sensitive and specific biomarker of CAH-21D in newborns.
Study context
- Population
- Newborns screened for congenital adrenal 21-hydroxylase deficiency (CAH-21D)
- Comparison
- Newborns with CAH-21D vs newborns without CAH-21D
- Outcome
- Serum 21-deoxycortisone (21DE) levels
- Follow-up
- Neonatal period
Methodological detailsmass spectrometry-based assay
- Mass spectrometry-based assay
Performance
As reported in the abstract
Serum 21DE
| Test or model | Value | Mean 21DE:21DF ratio |
|---|---|---|
| CAH-21D | mean 17.56 (range 8.58 ng/mL to 23.20 ng/mL) ng/mL | 4.99 |
CAH-21D
Valuemean 17.56 (range 8.58 ng/mL to 23.20 ng/mL) ng/mL
Mean 21DE:21DF ratio4.99
- In newborns without CAH-21D, 21DE levels were low and not statistically different from the analytical limit of quantification
- 0.01 ng/mL
Original publication
Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns. Eur J Endocrinol. Published 13 August 2024. doi:10.
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