hrp0094p2-47 | Adrenals and HPA Axis | ESPE2021

Clinical, biological and genetic aspects of congenital adrenal hyperplasia in children at the Central Army Hospital in Algiers

Iabbassen Malek , Bensalah Meryem , Tardy-Guidollet Veronique , Menassa Rita , Morel Yves , Ouldkablia Samia Khadidja ,

Context: Congenital adrenal hyperplasia (CAH) is a rare genetic defect. Its prevalence is estimated at one case per 3,000 births in Algeria and one case per 15,000 births worldwide. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. Molecular defects of CYP21A2 systematically decrease the activity of this enzyme and result in expression of varying severity and phen...