Matsushita Akio, Nakamura Hirotoshi
Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine.
Nihon Rinsho. 2002 Feb;60(2):284-90.
The TSH receptor belongs to a subfamily of G protein-coupled receptors that mediates the effect of TSH in thyroid development and hormone synthesis. Similarly to many other G protein--coupled receptors, both gain and loss of function mutations have been found in the TSH receptor. Loss of function mutations in the TSH receptor gene were first described in three siblings with resistance to TSH in 1995. To date, 13 pedigrees with TSH receptor mutations of loss of function type have been reported. The phenotype of the patients varies from euthyroid hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia.
促甲状腺激素（TSH）受体属于G蛋白偶联受体亚家族，介导TSH在甲状腺发育和激素合成中的作用。与许多其他G蛋白偶联受体类似，TSH受体中已发现功能获得性和功能丧失性突变。1995年，TSH受体基因的功能丧失性突变首次在三名对TSH有抵抗作用的同胞中被描述。迄今为止，已报道了13个具有功能丧失型TSH受体突变的家系。患者的表型从甲状腺功能正常的高促甲状腺素血症到伴有甲状腺发育不全的严重先天性甲状腺功能减退不等。
