갑상선호르몬 저항증후군 환자에서 발견한 갑상선호르몬 수용체 유전자 돌연변이 (전신성과 뇌하수체성 갑상선 호르몬 저항 증후군 각 1예)

Abstract

We report a point mutation in the TRβ gene in korean patients with generalized resistance and pituitary resistance to thyroid hormone. One mutation at TRβ(P453S) were detected in patient with pituitary resistance to thyroid, which showed different phenotype, generalized resistance to thyroid hormone, in her mothers. But, the other(C31Y), did not show clear relations with the disease. Therefore, further study of molecular and cellular basis will be warranted to explain the clear mechanism of the resistance to thyroid hormone(J Kor Soc Endocrinol 15:113-120, 2000).