Selective pituitary thyroid hormone resistance syndrome Clinical features and THR gene mutation.docVIP

 PAGE \* MERGEFORMAT 18 Selective pituitary thyroid hormone resistance syndrome Clinical features and THR gene mutation [Abstract] Objective To study the two cases of selective pituitary thyroid hormone resistance syndrome in patients with clinical features and thyroid hormone receptor (THR) gene mutations, to explore the pathogenesis of the disease. Method 2 patients and their parents to collect clinical data specimens from blood samples of genomic DNA, application of PCR DNA direct sequencing of genes of patients and their parents THR whether the mutations. Results 2 patients and parents THR gene exons 1-10 did not find mutations. Conclusion distributed pituitary thyroid hormone resistance syndrome onset may THR gene mutation. [Keywords:] hormone resistance, thyroid hormone receptor, gene, mutation ABSTRACT: Objective To study the clinical and THRgene 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 THRgene. 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 THRgene. KEY WORDS: hormone resistance; thyroid hormone receptor; gene; mutation Thyroid hormone resistance syndrome (thyroid hormone resistance syndrome, THRS) is due to the role of the target organ of thyroid hormone response to thyroid caused by reduced an autosomal dominant genetic disease, serum free T3 (FT3) and / or free T4 (FT4) increased, accompanied by normal or elevated serum inappropriate thyroid stimulating hormone (TSH) level is biochemical characteristics typical of the disease [1]. the more common familial disease, with about 15% of the sporadic cases . Since 1967, Refetoff et al [2] reported that since the first patien