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

impe0096ep4 | Adrenals and HPA Axis | IMPE2023

Infant with primary hypoaldosteronism due to aldosterone synthase deficiency

Viterbo Gisela , Ciaccio Marta , Martinez Castillo Iratxe , Sabbarese Luciana , Florencia Soto María , Manuel Lazzati Juan , Perez Garrido Natalia , Marino Roxana , Costanzo Mariana

Background: Aldosterone synthase is a cytochrome P450 enzyme encoded by the CYP11B2 gene and responsible of the conversion of dehydrocorticosterone to aldosterone through three enzymatic steps: addition of the 11b-hydroxyl group to form corticosterone, 18-hydroxylation to form 18-hydroxycorticosterone, and 18-dehydrogenation to form aldosterone. Two types of aldosterone synthase deficiency have been reported: type I related to defects in 18-hydroxilation, and ...