Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p1 | Adrenals and HPA Axis | IMPE2023

Effect of a coenzyme in gene therapy for 21-hydroxylase deficiency with AAV vectors into a model mouse

Naiki Yasuhiro , Miyado Mami , Horikawa Reiko , Katsumata Noriyuki , Fukami Maki

Background: Congenital adrenal hyperplasia (CAH) is due to defects of steroid synthetic enzymes, which includes microsomal and mitochondrial P450s. P450 enzymes need coenzymes respectively. Microsomal P450s include 21-hydroxylase need P450 oxidoreductase which coded by POR. 21-hydroxylase deficiency (21-OHD), in which CYP21A2 is mutated or deleted, is the most common cause of CAH and results in underproduction of glucocorticoids and mineralocorticoids, and ove...