ESPE Abstracts

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

The pathogenetic role of genetic factors in congenital hypothyroidism (CH) is now widely known. The constant evolution of diagnostic methods in the field of medical genetics provides the opportunity to obtain an etiological diagnosis in CH patients with genetic defects in candidate genes. We performed genetic analysis by Next Generation Sequencing (NGS) of 18 candidate genes (DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NKX2-1, NKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA,...