hrp0084p2-572 | Thyroid | ESPE2015

Mutational Analysis of TSH Receptor and the Clinical Characteristics of Congenital Hypothyroidism

Yu Jeesuk , Lee Seung Ho , Han Kyudong

Purpose: Aetiologies of congenital hypothyroidism (CH) in newborn period are various, and TSH receptor (TSHR) mutation is known as one of them. We evaluated mutational analysis of the gene TSHR and clinical characteristics in the patients with CH or neonatal hyperthyrotropinemia.Method: Mutation analysis was done in 96 children with CH or transient hyperthyrotropinemia who has been managed at the Department of Pediatrics in Dankook University Hospital. C...