一例TRβ基因P453T突变所致的甲状腺激素抵抗综合征合并垂体TSH微腺瘤的病例报告

One case of a thyrotropin-secreting microadenoma and resistance to thyroid hormone with P453T mutation in TRβ gene

对1例血清FT3、FT4及促甲状腺素（TSH）均升高的12岁女孩进行临床及实验室研究。基因测序结果显示该患者甲状腺激素受体（thyroid hormone receptor，TR）β第10号外显子的第453位密码子从CCT突变为ACT，致编码的蛋白质由脯氨酸变为苏氨酸（P453T）。垂体MRI发现垂体微腺瘤，经蝶窦腺瘤切除后，病理结果显示腺瘤组织呈TSH—β、ACTH、生长激素、催乳素及绒毛膜促性腺激素（HCG）-α亚单位阳性。这是国际上首次报道的甲状腺激素抵抗综合征合并垂体促甲状腺素微腺瘤的病例。

We investigated a 12-year-old girl with elevated serum FT3 , FT4, and TSH levels. The sequence of thyroid hormone receptor β （TRβ） exons revealed a CCT→ACT transition mutation at nucleotide 453 site within exon 10, which resulted in the substitution of cytosine to adenosinein （ P453T）. Pituitary magnetic resonance image showed a pituitary micoradenoma. The patient underwent transsphenoidal pituitary adenomectomy. Pathological results exhibited positive TSH-β, GH, prolactin, ACTH, and α-HCG staining for the tumor. This is the first case report with thyroid hormone resistance syndrome and thyrotropin-secreting adenoma.