Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement
Using 21-deoxycortisol for second-tier screening and applying a 3-component algorithm can improve performance of newborn screening for SW-CAH, reducing burden on patients and the health care system. Although cases of SV-CAH may be identified, the thresholds were set to identify life-threatening SW-CAH with a high positive predictive value and 100% sensitivity.
Authors
- Erika Bariciak (ORCID: https://orcid.org/0000-0002-1764-5943)
- Pranesh K. Chakraborty (ORCID: https://orcid.org/0000-0002-7719-0821)
- Sarah Lawrence (ORCID: https://orcid.org/0000-0002-7103-158X)
- Sergio Auger (ORCID: https://orcid.org/0009-0006-1135-3233)
- Alexa Marr (ORCID: https://orcid.org/0000-0002-8942-6029)
- Graham Sinclair (ORCID: https://orcid.org/0000-0002-3815-2005)
- Janet Marcadier
- Amy Chambers
- Diane K. Wherrett (ORCID: https://orcid.org/0000-0003-0629-5316)
- Emeril Santander (ORCID: https://orcid.org/0009-0002-8120-0401)
- Nathan McIntosh
- Matthew P.A. Henderson (ORCID: https://orcid.org/0000-0002-8404-8559)
- David S Saleh (ORCID: https://orcid.org/0000-0001-9194-8769)
- Susanne Eagle
- Michael Kowalskil
Institutions
- University of British Columbia (CA)
- University of Ottawa (CA)
- University of Toronto (CA)
- Queen's University (CA)
- Children's Hospital of Eastern Ontario (CA)
- Hospital for Sick Children (CA)
- Newborn Screening Ontario (CA)
- Windsor Regional Hospital (CA)
- Queens University (BD)
- BC Children's Hospital (CA)
- Kingston Health Sciences Centre (CA)
Publication Details
- Journal
- Journal of the Endocrine Society
- Published
- 2025-10-08
- DOI
- https://doi.org/10.1210/jendso/bvaf157
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00