Research A Case--Pituitary Thyroid Hormone Resistance Syndrome

Research a case of pituitary thyroid hormone resistance syndrome whose TRβexons' gene mutation were not found.Collect the clinical database of the patient and his family members and analysis the situation of TRβgene to find out whether the patient and his family members exist TRβgene mutation.The patient is a 14-year old man.He was admitted to hospital for repeated dyspnea for 7 years with 3 months'asthenia and weight loss.In physical examination,tachycardia and thyroid goiter were found.The result of repeated thyroid hormone level detections was that T3 was normal with FT3,FT4,T4 and s-TSH were higher than normal range.The pituitary MRI was normal.Collect the peripheral blood of the patient and his family members and assay the hormone of thyroid gland then extract genomic DNA of the patient and two family members whose thyroid hormone was abnormal.PCR amplification of 1～10 exons of TRβgene and purification of products then directly DNA sequencing were carried out.By detecting,non TRβgene mutation was found. Consulting literature,that may exist anomalies in TR cofactors which can lead to dissociation impairment of corepressor,or combination impairment of coactivator.These will influence the target genes'transcription and translation,thereby prevent thyroid hormone acting on pituitary to produce selective pituitary thyroid hormone resistance.