R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children
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DOI：
10.1016/j.cca.2012.02.027
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发表时间：
2012-06-14
影响因子：
5
通讯作者：
Chao, Mei-Chyn
中科院分区：
文献类型：
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作者：
Chang, Wei-Chiao;Liao, Cheng-Yu;Chao, Mei-Chyn
背景：最常见的先天性内分泌疾病，先天性甲状腺功能减退症（CHT），与甲状腺激素缺乏密切相关。既往研究表明，甲状腺刺激激素受体（TSHR）突变是先天性甲状腺功能减退症发生的危险因素。TSHR的一种突变p.R450H在日本CHT儿童中特别常见。然而，台湾CHT患者中这种TSHR突变的频率尚不清楚。方法：我们招募了149名CHT患者和334名自愿参加健康筛查检查的健康受试者。结果：TSHR突变（p.R450H）与CHT发病风险显著相关（显性模型P=0.0008，等位基因模型P=0.0002）。CHT患者p.R450H纯合子频率为1.4%，杂合子频率为5.6%。所有5例患者血清TSH水平均升高。结论：本研究中约7%的CHT患者存在杂合或纯合的TSHR突变（c.1349G>A）。p.R450H）。与先前日本人的报告一致，此突变在台湾CHT儿童中相对重要。(C)2012爱思唯尔有限公司版权所有。
Background: The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. One mutation of TSHR, p.R450H, is particularly frequent in Japanese children with CHT. However, the frequency of this TSHR mutation among Taiwanese patients with CHT is unclear.Methods: We enrolled 149 CHT patients and 334 healthy subjects who volunteered to participate in health screening examinations. We characterized the clinical status of CHT patients with the TSHR mutations.Results: There was a significant association between the TSHR mutation (p.R450H) and the risk of CHT (P=0.0008 under the dominant model and P=0.0002 under the allelic model). The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%. All five patients had elevated serum TSH levels. However, there was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.Conclusion: Approximately 7% of the patients in this study with CHT had heterozygous or homozygous TSHR mutations (c.1349G>A. p.R450H). Consistent with previous reports on Japanese populations, this mutation was relatively important in the Taiwanese children with CHT. (C) 2012 Elsevier B.V. All rights reserved.