150
Participants
Start Date
January 1, 2023
Primary Completion Date
October 31, 2025
Study Completion Date
January 31, 2026
NGS sequencing
analysis of candidate genes for RTHs syndromes, transporters defects or gene involved in thyroid hormone metabolism. Whole exome sequencing (WES) in a minority of cases
serological tests
assessment of T4, T3 and other TH metabolites (LC-MS) in serum and dried blood spots
RECRUITING
Istituto Auxologico Italiano IRCCS, Milan
RECRUITING
Department of Endocrine & Metabolic Diseases, San Luca Hospital, Milan
ASST Fatebenefratelli Sacco
OTHER
Federico II University
OTHER
Istituto Auxologico Italiano
OTHER