Searchable abstracts of presentations at key conferences in endocrinology

ea0014oc1.1 | Thyroid clinical | ECE2007

Prevalence of inactivating TSH receptor (TSHR) mutations in a large series of pediatric subjects with non-autoimmune mild hyper-thyrotropinemia (hyperTSH)

Cordella Daniela , Marco Alessandro De , Calebiro Davide , Filippis Tiziana de , Radetti Giorgio , Weber Giovanna , Vigone Maria Cristina , Cappa Marco , Sartorio Alessandro , Busnelli Marta , Bonomi Marco , Chini Bice , Beck-Peccoz Paolo , Persani Luca

Mild hypothyroidism is a heterogeneous and frequent disorder in the general population that is due to autoimmune disease in most of the cases. TSH resistance is considered a rare genetic disease due to germline loss-of-function TSHR mutations. However, TSHR mutations have been mainly searched in patients with large TSH elevations and their actual prevalence among patients with mild TSH elevations (as those found in mild hypothyroidism) is so far unknown. In this study, we eval...