A Familyline Investigation Of Thyroid Hormone Resistance And Genetic Screening

Objective:The purpose of this study is to investigate a family of resistance to thyroid hormone?RTH?and to detect mutations of thyroid hormone receptor beta?TR??,combined with its cause.clinical manifestations,diagnosis,differential diagnosis and treatmens,etc,to discuss the pathogenesis of RTH at the molecular level.Methods:Collect the clinical data of the propositus,and carry out related laboratory tests and curative effect evaluation.General condition and clinical data of her family members was collected,then carry out thyroid function.Peripheral blood samples were obtained from the propositus and her three family members.Then the genomic DNA of TR? was isolated and amplified by polymerase chain reaction?PCR?.The products of PCR were purified and sequenced directly to detect the gene mutations.Results:The propositus and her father presented with goiter and their serum T3,T4 and TSH were elevated.T3 inhibit test of the propositus showed that pituitary and peripheral tissues were all resistance to T3.And puretone audiometry:ears are extremely severe neurological sound hearing loss.The sequencing of all the four PCR products?exons 7?10?compared with the sequence provided by Gen-Bank?NC₀00003.11?were not found replacement,insert or lack of any form of genetic mutations.Conclusion:The propositus and her father fit the diagnosis of RTH.There may be mutations in other exons or introne.Studies in recent years show that RTH can also caused by the deficiency or disfunction of cofactor,cell membrane transporter and iodothyronine deiodinase...