乌贝拉巴市/米纳斯吉拉斯州先天性甲状腺功能减退症的发病率及患病者的病因学评估。
Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects.
作者信息
Palhares Heloísa Marcelina da Cunha, Silva Lilian Carla, Sato Luciene Mayumi, Lara Beatriz Hallal Jorge, Miranzi Sybele de Souza Castro, Silva Adriana de Paula, Borges Maria de Fátima
机构信息
Disciplina de Endocrinologia, Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brasil.
出版信息
Arq Bras Endocrinol Metabol. 2012 Jul;56(5):305-12. doi: 10.1590/s0004-27302012000500005.
OBJECTIVE
The objective of this study was to determine the incidence and etiology of congenital hypothyroidism (CH) in Uberaba, MG.
SUBJECTS AND METHODS
From 2001 to 2010, by reviewing patient files from a public reference outpatient unit. The screening program covered 88% of live-born children.
RESULTS
CH was diagnosed in 16 children, representing an incidence of 1:2,017 live-born children screened. The etiological evaluation was done in 15 children and revealed seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. One child moved away from the state before etiological investigation was carried out.
CONCLUSION
We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.
目的
本研究的目的是确定巴西米纳斯吉拉斯州乌贝拉巴市先天性甲状腺功能减退症（CH）的发病率和病因。
对象与方法
2001年至2010年，通过查阅一家公共参考门诊单位的患者档案。筛查项目覆盖了88%的活产儿童。
结果
16名儿童被诊断为CH，在接受筛查的活产儿童中发病率为1:2017。对15名儿童进行了病因评估，结果显示7例甲状腺发育不全，7例激素合成障碍，1例暂时性甲状腺功能减退。1名儿童在进行病因调查前离开了该州。
结论
我们得出结论，在所调查地区，CH的发病率以及作为CH主要病因的激素合成障碍的发病率均有所上升，但需要进行分子研究以更好地确定病因。
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