Carolina Perez

Refractory hypoparathyroidism in paediatric autoimmune polyglandular syndrome type 1: successful long-term use of teriparatide

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare monogenic disorder caused by pathogenic variants in the autoimmune regulator (AIRE) gene. It typically manifests in childhood with at least two features of the classic triad: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. We p...