hrp0097p2-4 | Adrenals and HPA Axis | ESPE2023

Newborn screening for 21 OH Congenital adrenal hyperplasia in Italy: a 14 years population study.

Baronio Federico , Abrigo Enrica , Azzolini Sara , Cavarzere Paolo , Matarazzo Patrizia , L.C. Meroni Silvia , Russo Gianni , Balsamo Antonio , Cassio Alessandra

Introduction: Early identification of classic 21OH-Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is crucial to prevent adrenal crises, especially in males. Today 21 OH-CAH NBS is performed in 5/21 regions of Italy. This study aims to report the results of 21OH-CAH NBS in Italy from 2006 to 2019.Methods: All patients underwent a dried blood spot (DBS) test for 17OH-progesterone (17OHP) within t...