hrp0092p2-276 | Thyroid | ESPE2019

Novel Thyroid Hormone Receptor β-Gene Mutations in Resistance to Thyroid Hormone

Kim Heung Sik , Kim Se Jin , Kim Ga Hyun , Kang Seok Jin

The syndrome of resistance to thyroid hormone (RTH) is caused by decreased tissue responsiveness to thyroid hormone. With the exception, inheritance of RTH is autosomal dominant. The receptors are encoded by two genes (THRA and THRB), each of which undergoes alternate splicing to generate receptor subtypes (TRa1, TRβ1, and TRβ2), with differing tissue distributions.Here we describe a child with novel heterozygous mutations for THRB. Nine-months-old ...