CAJ | 학술논문

甲状腺激素抵抗综合征是甲状腺激素靶组织对甲状腺激素敏感性降低的一组综合征,以血清中FT3、FT4升高和不能被抑制的TSH为显著特征,其90％以上具有家族遗传性,呈常染色体显性遗传,大多数源于编码甲状腺激素受体β(TRβ)基因的突变.甲状腺激素抵抗综合征的临床表现具有高度的异质性,在不同的家系、同一家系不同的患者、同一患者不同时期都可以有不同的临床表现,易与其他常见的甲状腺疾病相混淆,因此在临床诊治中常因认识不足容易导致误诊和误治.本文详细分析1例甲状腺激素抵抗综合征的诊断和治疗以及患者和家系成员TRβ基因突变的筛查结果,以引起临床医生重视甲状腺激素抵抗综合征的诊治.
갑상선격소저항종합정시갑상선격소파조직대갑상선격소민감성강저적일조종합정,이혈청중FT3、FT4승고화불능피억제적TSH위현저특정,기90％이상구유가족유전성,정상염색체현성유전,대다수원우편마갑상선격소수체β(TRβ)기인적돌변.갑상선격소저항종합정적림상표현구유고도적이질성,재불동적가계、동일가계불동적환자、동일환자불동시기도가이유불동적림상표현,역여기타상견적갑상선질병상혼효,인차재림상진치중상인인식불족용역도치오진화오치.본문상세분석1례갑상선격소저항종합정적진단화치료이급환자화가계성원TRβ기인돌변적사사결과,이인기림상의생중시갑상선격소저항종합정적진치.
Syndrome of resistance to thyroid hormone (RTH) is a rare disorder with reduced tissue response to thyroid hormones,and it is characterized by elevated circulating free thyroid hormones (FT3 and FT4) and nonsuppressed serum TSH.More than 90％ of RTH are hereditary,displaying autosomal dominant inheritance,most of which are linked to mutations of thyroid hormone receptor β gene (TRβ).RTH has a high degree of clinical heterogeneity,and the clinical manifestations are varied among patients with different course,among different families with RTH and even among different affected family members in one family.Because RTH can be easily confused with the other common thyroid diseases,misdiagnosis and mistherapy are often encountered in RTH patients due to lack of understanding of RTH.Here we present a case of RTH with genetic diagnosis and treatment together with the TRβ gene screening results in her mother in order to call attention to the diagnosis and treatment of RTH.