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先天性甲状腺功能低下症是由于先天性因素引起甲状腺素合成障碍、分泌减少,而导致患儿生长障碍,智力发育落后的疾病。其发病率居先天性代谢异常疾病的首位。该病早期治疗预后较好,延迟治疗则可出现不可逆性脑损害,值得有关临床医师高度重视。2005年美国健康与人类服务部公布新生儿疾病筛查指南,将先天性甲状腺功能低下症作为29种首要筛查疾病之一。因此,临床医师有必要掌握该病的新生儿筛查原则,分析筛查结果,及时诊断和制定合适的治疗方案。
Congenital hypothyroidism is due to congenital factors cause thyroid hormone synthesis disorders, decreased secretion, which led to growth disorders in children, mental retardation of the disease. The incidence of inborn errors of metabolism in the first place. The prognosis of the disease early treatment is better, delayed treatment can occur irreversible brain damage, it is worth the clinician attaches great importance. In 2005, the U.S. Department of Health and Human Services published a guide to neonatal screening, which identified congenital hypothyroidism as one of the 29 primary screening diseases. Therefore, clinicians need to master the neonatal screening of the disease principles, analysis of screening results, timely diagnosis and development of appropriate treatment options.