One case of a thyrotropin-secreting microadenoma and resistance to thyroid hormone with P453T mutation in TRβgene
10.3760/cma.j.issn.1000-6699.2016.01.006
- VernacularTitle:一例TRβ基因P453 T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
- Author:
Xiaochun TENG
;
Ting JIN
;
Ranran WANG
;
Zhongyan SHAN
;
Weiping TENG
- Publication Type:Journal Article
- Keywords:
Thyroid hormone resistance;
Thyroid hormone receptor β;
Gene mutation;
Thyrotropin-secreting pituitary adenoma
- From:
Chinese Journal of Endocrinology and Metabolism
2016;(1):19-23
- CountryChina
- Language:Chinese
-
Abstract:
[Summary] We investigated a 12-year-old girl with elevated serum FT3 , FT4 , and TSH levels. The sequence of thyroid hormone receptorβ( TRβ) exons revealed a CCT→ACT transition mutation at nucleotide 453 site within exon10,whichresultedinthesubstitutionofcytosinetoadenosinein(P453T). Pituitarymagneticresonanceimage 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.
