갑상선호르몬수용체 돌연변이가 동반된 갑상선호르몬저항증후군 1예
Case of Thyroid Hormone Resistance Syndrome with a Mutation in the Thyroid Hormone Receptor Beta Gene
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초록
저자들은 갑상선호르몬 투여 전후 갑상선자극호르몬분비호르몬 자극검사, α-아단위 측정, 뇌하수체자기공명영상, 갑상선호르몬수용체 β 유전자검사로 진단한 갑상선호르몬수용체 β 유전자 돌연변이(R438H)가 확인된 갑상선호르몬저항증후군 증례를 국내에서 처음으로 경험하였기에 문헌고찰과 함께 보고하는 바이다.
Abstract
In thyroid hormone resistance syndrome (THR) TSH levels are normal or elevated despite thyroid hormone levels being elevated. THR is distinguished from TSH-producing pituitary adenoma by TRH stimulation and α-subunit tests, thyroid hormone receptor (TR) β gene analysis, and sellar MRI. A 24-year old man with diffuse goiter visited our hospital complaining of fatigue, heat intolerance, palpitation, and weight loss. He had elevated total T3 and free T4 levels, but normal TSH levels. Serum TSH levels during TRH stimulation tests performed before and after T3 suppression showed normal and non-suppressible responses, respectively. The serum basal α-subunit test result was normal. A TR β gene R438H mutation was identified, and a pituitary mass with cystic change was identified by sellar MRI. We report a case of THR with a mutation (R438H) in the TR β gene, the first case of its kind in Korea. (Korean J Med 2011;80:S220-S226)
참고문헌 (20)
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