ESPE Abstracts

Background: Resistance to thyroid hormone (RTH) is a rare clinical syndrome characterized by end organ resistance due to mutations in the thyroid hormone receptor (THRB) gene. The combination of RTH and congenital hypothyroidism (associated with thyroid agenesis or ectopic gland) has been reported in at least 6 genetically proven cases.Case report: We report an 8-year-old girl, diagnosed with congenital hypothyroidism at...