hrp0098p1-5 | Adrenals and HPA Axis 1 | ESPE2024

Evaluation of 2 years second tier testing for the screening on congenital adrenal hyperplasia (CAH)

Olthof Anouk , Bouva Marelle , Claahsen - van der Grinten Hedi , Westra Dineke , Dekkers Eugènie , Heijboer Annemieke , Hannema Sabine , Boelen Anita

Objectives: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is included in the Dutch Newborn Screening (NBS) since 2002. NBS for CAH consists of a 17-hydroxyprogesterone (17-OHP) measurement in dried blood spots (DBS) with gestational age-adjusted cutoffs. Previously, a second heel prick was performed in newborns with inconclusive results to reduce false-positives. In October 2021, 21-deoxycortisol (21-DOCL) was introduced as a s...