hrp0094p2-32 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene.

Fylaktou Eirini , Christoforidis Athanasios , Moutsanas Vissarios , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...