ESPE Abstracts

Background & aim: Biallelic thyroglobulin (TG) gene variants can cause congenital hypothyroidism (CH), usually presenting with neonatal goiter and permanent in duration. In cases where biallelic truncating TG variants are present, serum TG levels are undetectable, while monoallelic or biallelic missense mutations manifest with circulating TG. Here, we present a case of transient CH resulting from TG deficiency, stemming from compound heterozygosity for a m...