伊斯法罕先天性甲状腺功能减退症的高患病率：家族因素起作用吗？
High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?
作者信息
Hashemipour Mahin, Hovsepian Silva, Kelishadi Roya
机构信息
Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
出版信息
Adv Biomed Res. 2012;1:37. doi: 10.4103/2277-9175.100130. Epub 2012 Aug 28.
BACKGROUND
Despite elimination of iodine deficiency, the rates of both permanent and transient congenital hypothyroidism (CH) in our study were higher than the comparable worldwide rates, which emphasize the major role of genetic factors in the pathogenesis of CH and many studies in this regard confirm this possibility.
MATERIALS AND METHODS
In this review, we report all studies that established during CH screening program regarding familial and genetic component of the disease.
RESULTS
Although we could not entirely ignore the possible role of environmental and autoimmune factors in the development and function of thyroid gland, our findings strongly suggest the role of genetic factors as dominant etiologic factor in CH.
CONCLUSION
The studies support the existence of a familial component of CH involving dominant genetic predisposition factors with a low penetrance. Considering the polygenic/multifactorial basis of CH, they suggest the possible involvement of other unknown genes in the pathogenesis of the disease, which may also follow non-Mendelian pattern of inheritance.
背景
尽管碘缺乏已被消除，但在我们的研究中，永久性和暂时性先天性甲状腺功能减退症（CH）的发生率均高于全球可比发生率，这突出了遗传因素在CH发病机制中的主要作用，并且许多这方面的研究证实了这种可能性。
材料与方法
在本综述中，我们报告了在CH筛查项目期间开展的所有关于该疾病家族性和遗传成分的研究。
结果
尽管我们不能完全忽视环境和自身免疫因素在甲状腺发育和功能中的可能作用，但我们的研究结果强烈表明遗传因素是CH的主要病因。
结论
这些研究支持CH存在家族性成分，涉及低外显率的显性遗传易感性因素。考虑到CH的多基因/多因素基础，它们提示可能有其他未知基因参与该疾病的发病机制，这些基因也可能遵循非孟德尔遗传模式。
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