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Research a Case--Pituitary Thyroid Hormone Resistance Syndrome

Author: ChenLingYan
Tutor: GaoZuo;LingYan
School: Fudan University
Course: Internal Medicine
Keywords: Thyroid hormone resistance Thyroid hormone receptor Gene mutation Pathogenesis
CLC: R725.8
Type: Master's thesis
Year: 2009
Downloads: 21
Quote: 0
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The studies one case not found the selective TRβ (thyroid hormone receptorβ, TRβ) exon gene mutation pituitary thyroid hormone resistance syndrome (pituitary thyroid hormone resistance syndrome, PRTH) patients and their family situation . General clinical data collected probands and their family members , and a detailed analysis of the TRβ gene mutation , clear whether patients exist the TRβ outside exon gene mutation . The proband 14 -year-old male , \FT3, T4, FT4, s-TSH above the normal range , no abnormal pituitary MRI examination . Collected peripheral blood of the proband and 14 famous faculty members , measured thyroid axis hormone levels . 2 in the proband and family thyroid hormone detected abnormal peripheral genomic DNA was collected the PCR segment amplified TRβ gene exon 1 to 10 , the product is purified directly after DNA sequencing of exons , and detecting mutations point. After testing, none of the family members of patients as well as to detect abnormal thyroid hormone TRβ exon gene mutation . Literature speculated that the patients may exist cofactor activation barriers to factor binding TR and auxiliary or auxiliary inhibiting factor dissociative disorders affect target gene transcription and translation , and thus hinder the thyroid hormones in the pituitary , resulting in selective pituitary thyroid hormone resistance .

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