Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers
Authors' conclusion
This new algorithm could have an important impact on reducing the number of recall and family stress related to NBS.
Study context
- Population
- Newborns in congenital adrenal hyperplasia (CAH) newborn screening, 2 newborn screening (NBS) centres (greater Paris region and Brittany, France)
- Comparison
- LC-MS/MS steroid profile enriched with 11-ketotestosterone and 21-deoxycortisone vs current CAH NBS by fluoroimmunoassay (FIA)
- Outcome
- Discrimination of oxygenated androgen/pregnane steroids in CAH NBS
Methodological detailspreliminary results, 2 NBS centres, machine learning model, Current FIA at Ile-de-France NBS centre: false-positive rate ≈80%, PPV 16% for first- and second-tier measurements
- Preliminary results
- 2 NBS centres
- Machine learning model
- Current FIA at Ile-de-France NBS centre: false-positive rate ≈80%, PPV 16% for first- and second-tier measurements
Main finding
As reported in the abstract
- Oxygenated androgen/pregnane steroids significantly discriminative to streamline CAH NBS, shown in 2 NBS centres
- Preliminary results
Original publication
Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers. Eur J Endocrinol. Published 9 October 2025. doi:10.
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