LONG-TERM FOLLOW-UP OF A PATIENT WITH SPORADIC NONAUTOIMMUNE HYPERTHYROIDISM DUE TO A THYROTROPIN-RECEPTOR MUTATION (D619G)
LONG-TERM FOLLOW-UP OF A PATIENT WITH SPORADIC NONAUTOIMMUNE HYPERTHYROIDISM DUE TO A THYROTROPIN-RECEPTOR MUTATION (D619G)
复制标题
因促甲状腺激素受体突变 (D619G) 导致散发性非自身免疫性甲状腺功能亢进症患者的长期随访
DOI：
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发表时间：
2018
期刊：
影响因子：
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通讯作者：
A. Miyauchi
中科院分区：
文献类型：
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作者：
E. Nishihara;M. Tsugawa;Y. Ozaki;Y. Nagayama;S. Fukata;M. Hirokawa;Mitsuru Ito;M. Nishikawa;Hirotoshi Nakamura;Yoshiya Ito;A. Miyauchi
摘要目的：由促甲状腺激素受体（TSHR）基因的种系突变引起的散发性非自身免疫性甲状腺功能亢进症是一种非常罕见的疾病，表现为严重的先天性甲状腺功能亢进症。我们描述一个在青春期出现散发性非自身免疫性甲状腺机能亢进的病例。方法：对实验室数据、影像学、组织病理学、临床随访和DNA测序进行评价。结果：患者足月出生，出生体重正常，但在约7个月时显示生长速度加快。他在13岁时的一次学校体检中发现心动过速之前没有就医。甲状腺功能检查证实甲状腺功能亢进，抗TSHR抗体阴性。在维持他巴唑治疗12年后，他接受了甲状腺全切除术，切除的甲状腺组织重量为131 g。组织病理学检查显示囊状腺瘤、腺瘤性甲状腺肿和滤泡增生性改变。
ABSTRACT Objective: Sporadic nonautoimmune hyperthyroidism caused by germline mutations of the thyrotropin receptor (TSHR) gene is a very rare disease that manifests as severe congenital hyperthyroidism. We describe a case presenting with sporadic nonautoimmune hyperthyroidism during adolescence. Methods: Laboratory data, imaging, histopathology, clinical follow-up, and DNA sequencing were evaluated. Results: The patient was born at term with a normal birth weight but showed increased growth velocity at approximately 7 months. He had no medical consultation before tachycardia was detected at a school physical examination at the age of 13 years. Thyroid function tests confirmed hyperthyroidism with negative anti-TSHR antibodies. After maintaining methimazole therapy for 12 years, he underwent total thyroidectomy, and the weight of the resected thyroid tissue was 131 g. The subsequent histopathologic findings showed an encapsulated follicular adenoma, adenomatous goiter, and hyperplastic changes of the foll...
异卵双胞胎中的先天性非自身免疫性甲状腺功能亢进症是由促甲状腺激素受体基因的偶发性种系突变引起的。
DOI：
10.1089/thy.1997.7.765
发表时间：
1997
期刊：
Thyroid : official journal of the American Thyroid Association.
影响因子：
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作者：
Kopp,P;Jameson,JL;Roe,TF
通讯作者：
Roe,TF