甲状腺激素受体β基因突变致甲状腺激素抵抗综合征家系分析

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Abstract Objective: To investigate the molecular genetics in one patients with resistance to thyroid hormone (RTH) in the pedigree and to analyze her general signs and misdiagnosis. Methods: With written informed consents obtained, the clinical data of the female patient with RTH and her family members were collected. Genomic DNA was extracted from the peripheral blood samples of the patient and her ten family members. The exons 3-10 coding region of thyroid hormone receptor β (TRβ) genes were amplified by PCR, and then directly sequenced. Results: In this pedigree, there were three RTHβ patients. The analysis identified a heterozygous mutant at exon 9 of TRβ (c.1234 A>G), which led to missense mutation in the proband as well as in her son and her mother. The proband presented with palpitation and weight loss, while her son had the characteristics of hyperactivity and the mother of the proband showed mild symptoms. Unfortunately, the proband and her son had been misdiagnosed for hyperthyroidism and underwent radioiodine therapy in another hospital. They may have to take levothyroxine for lifelong time. The mother of the proband had not been misdiagnosed because of the mild clinical manifestation. Conclusion: The RTH in the pedigree was caused by the TRβ mutation (A317T). It is of importance for doctors to know this disease better so that hormone ablation such as radioiodine therapy or thyroid surgery could be prevented.

Key words： resistance to thyroid hormone thyroid hormone receptor β gene mutation radioiodine therapy

Received: 14 August 2017

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	QIAN Yanying
	DAI Zhijuan
	JIN Jian
	ZHU Cong
	ZHOU Yingying
	WU Chaoming.

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https://xb.wmu.edu.cn/EN/ OR https://xb.wmu.edu.cn/EN/Y2018/V48/I3/172

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