遗传因素对新生儿暂时性甲状腺功能减退症的影响。
Contribution of genetic factors to neonatal transient hypothyroidism.
作者信息
Niu D-M, Lin C-Y, Hwang B, Jap T-S, Liao C-J, Wu J-Y
机构信息
Department of Pediatrics, Taipei Veterans General Hospital, Taiwan National Yang-Ming University.
出版信息
Arch Dis Child Fetal Neonatal Ed. 2005 Jan;90(1):F69-72. doi: 10.1136/adc.2003.039065.
BACKGROUND
The causes of neonatal transient hypothyroidism (NTH) remain incompletely understood. Whether it is influenced by genetic background is rarely discussed and remains unproven. A defect in thyroid peroxidase is a common cause of dyshormonogenesis of the thyroid gland in Taiwanese, with a novel mutation (2268insT) present in nearly 90% of alleles studied.
OBJECTIVE
To determine if the presence of this common mutation is associated with NTH in Taiwan.
METHODS
A mismatched primer was designed and used for this specific 2268insT mutation to screen 1000 normal babies and 260 babies with confirmed NTH.
RESULTS
The carrier rate for 2268insT in normal babies (1/200) was significantly lower than in babies with NTH (1/13; p<0.0001).
CONCLUSIONS
The results strongly suggest that the presence of this thyroid peroxidase mutation contributes to the development of NTH. Likely pathogenetic explanations include the effect of the stress of extrauterine adaptation during labour on an immature pituitary-thyroid axis in genetically predisposed individuals, combined with environmental triggers such as iodine deficiency, perinatal iodine exposure, and/or goitrogen contamination.
背景
新生儿暂时性甲状腺功能减退症（NTH）的病因尚未完全明确。其是否受遗传背景影响鲜有讨论且尚无定论。甲状腺过氧化物酶缺陷是台湾地区甲状腺激素合成障碍的常见原因，在所研究的等位基因中，近90%存在一种新的突变（2268insT）。
目的
确定这种常见突变的存在是否与台湾地区的NTH相关。
方法
设计错配引物用于该特定的2268insT突变，对1000名正常婴儿和260名确诊为NTH的婴儿进行筛查。
结果
正常婴儿中2268insT的携带率（1/200）显著低于患NTH的婴儿（1/13；p<0.0001）。
结论
结果强烈表明这种甲状腺过氧化物酶突变的存在促成了NTH的发生。可能的发病机制解释包括分娩期间宫外适应应激对遗传易感性个体中未成熟的垂体 - 甲状腺轴的影响，以及碘缺乏、围产期碘暴露和/或致甲状腺肿物质污染等环境触发因素。
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