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先天性甲状腺功能减退症的病因与治疗 被引量:10

Cause and Treatment of Congenital Hypothyroidism
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摘要 先天性甲状腺功能减退症(甲低)是小儿常见内分泌疾病之一。其病因多系先天性甲状腺发育不良和甲状腺激素合成障碍。目前对先天性甲低病因的研究已发展到基因水平,影响甲状腺发育的基因有Pax8基因、甲状腺转录因子-2(TTF-2)基因、促甲状腺素受体(TSHR)基因等。影响甲状腺激素合成的基因有甲状腺过氧化物酶(TPO)基因、甲状腺氧化酶(THOX)基因、甲状腺球蛋白(TG)基因等。这些基因的缺陷在先天性甲低的发病中起着重要作用。先天性甲低如不能早期诊断、及时治疗则可造成智力和体格的终生残疾,而早期、适当的治疗可使患儿生长发育正常。
作者 杨箐岩
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2008年第8期561-563,共3页 Journal of Applied Clinical Pediatrics
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