Vlaeminck-Guillem V, Margotat A, Torresani J, D'herbomez M, Decoulx M, Wémeau J L
Clinique Endocrinologique Marc Linquette, USNA, CHRU de Lille 6, rue du Pr Laguesse, France.
Ann Endocrinol (Paris). 2000 Sep;61(3):194-9.
Syndromes of resistance to thyroid hormone (RTH) are almost always linked to a defective triiodothyronine-receptor B gene (TRB). Only six families with RTH exhibiting a normal TRB gene have been reported so far. We report another and discuss possible mechanisms.
We studied a kindred expressing a typical RTH phenotype. DNA was amplified and the TRB gene was sequenced. Linkage analysis assessed linkage between the TRB gene and RTH phenotype.
Direct sequencing of the TRB gene failed to identify any anomaly in the coding exons. Linkage analysis demonstrated that the RTH phenotype was not linked to the TRB gene in this family.
TRB1 and TRB2 genes were not defective in this family. Multiple mechanisms might account for this situation at the pre-receptor, receptor and post-receptor levels. The most likely hypothesis is the involvement of an abnormal nuclear cofactor serving a specific function in the regulation of thyroid hormone action.
甲状腺激素抵抗综合征（RTH）几乎总是与缺陷性的三碘甲状腺原氨酸受体B基因（TRB）相关联。迄今为止，仅报道了6个RTH家族的TRB基因正常。我们报告了另外一个家族并讨论了可能的机制。
我们研究了一个表现出典型RTH表型的家族。对DNA进行扩增并对TRB基因进行测序。连锁分析评估TRB基因与RTH表型之间的连锁关系。
TRB基因的直接测序未能在编码外显子中发现任何异常。连锁分析表明该家族的RTH表型与TRB基因不连锁。
该家族中TRB1和TRB2基因无缺陷。多种机制可能在受体前、受体和受体后水平导致这种情况。最可能的假说是一种异常核辅因子参与甲状腺激素作用调节的特定功能。
