Clinical and THR? gene mutation study on pituitary thyroid hormone resistance syndrome
- VernacularTitle:选择性垂体甲状腺激素抵抗综合征患者的临床特点与THR?基因突变的研究
- Author:
Bingyin SHI
;
Jing LIANG
- Publication Type:Journal Article
- Keywords:
hormone resistance;
thyroid hormone receptor;
gene;
mutation
- From:
Journal of Xi'an Jiaotong University(Medical Sciences)
2003;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical and THR?gene mutation of two cases of pituitary thyroid hormone resistance. Methods The clinical data and peripheral blood samples of the patients and their family members were collected, and then DNA was isolated. PCR and direct sequencing techniques were performed to determine if there were mutations in their THR?gene. Results No mutation was found in exon 1-10. Conclusion Pathogenesis of sporadic pituitary resistance to thyroid hormone usually has no relation with mutation of THR?gene.