hrp0095p1-410 | Adrenals and HPA Axis | ESPE2022

Neonatal Screening for Congenital Adrenal Hyperplasia in Saudi Arabia: A Retrospective, Descriptive study

Alshehri Eman , Alharbi Fahad

Background and Aims: A congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are interrupted by gene mutations. More than 90% of CAH, is caused by 21-hydroxylase (21OHD) deficiency. The 17α-hydroxylase (17OHD) deficiency one of the less common forms of CAH, can result in significant morbidity and mortality if left untreated, thus making early diagnosis essential. In Saudi A...