LaFranchi S H, Murphey W H, Foley T P, Larsen P R, Buist N R
Pediatrics. 1979 Feb;63(2):180-91.
The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of 69,000/ yr) was added to our ongoing screening program in 1975. The program utilizes dried blood filter paper specimens collected routinely in the first few days of life in all four states and again at about 6 weeks of age in Oregon only. The screening test consist of an initial thyroxine (T4) measurement; a thyroid-stimulating hormore (TSH) determination is performed on those specimens with T4 concentrations in the lowest 3% group. Serum samples obtained by venipuncture are requested for confirmation of the diagnosis. In the first two years of the program, 25 infants with primary hypothyroidism were detected amont 110,667 infants screened, a frequency of 1:4,430. Fourteen cases of thyroxine-binding globulin deficiency were also detected, a frequency of 1:7,900. Using the T4 followed by TSH testing approach, the frequency of request for repeat specimens was 0.4% in Oregon and 0.05% in the other states. The cost per specimen was $1.96. The majority of infants lacked clinical signs or symptoms of hypothyroidism; only one infant was clinically suspected of having hypothyroidism prior to detection. The most common neonatal symptoms were constipation, lethargy, and prolonged jaundice, while the most common physical signs were hypotonia, umbilical hernia, and large fontanels. Thyroid scans showed the most common etiology to be thyroid aplasia, followed by an ectopic gland, hypoplasia, and goiter. Serum T4 concentrations were lowest in those infants with aplasia, intermediate in infants with an ectopic gland or hypoplasia, and normal in the infant with the goiter. Neonatal hypothyroidism varies in degree and has several different causes; the capacity to secrete thyroid hormone, the duration before hypothyroidism becomes clinically manifest, and possibly the eventual prognosis for intellectual function depend on the nature of the underlying cause. While the mean age at treatment was 59 days, the goal of diagnosing congenital hypothyroidism and treating affected infants by 1 month of age seems realistic.
1975年，俄勒冈州、蒙大拿州、阿拉斯加州和爱达荷州（年出生人口总数为69,000）的新生儿先天性甲状腺功能减退症区域筛查项目被纳入我们正在进行的筛查计划。该项目利用在这四个州所有新生儿出生后头几天常规采集的干血滤纸标本，在俄勒冈州仅在约6周龄时再次采集。筛查试验首先进行甲状腺素（T4）测定；对于T4浓度处于最低3%组的标本，进行促甲状腺激素（TSH）测定。通过静脉穿刺采集血清样本以确诊。在该项目的头两年，在110,667名接受筛查的婴儿中，检测出25例原发性甲状腺功能减退症患儿，发病率为1:4,430。还检测出14例甲状腺素结合球蛋白缺乏症病例，发病率为1:7,900。采用先检测T4然后检测TSH的方法，俄勒冈州重复采集标本的需求率为0.4%，其他州为0.05%。每个标本的成本为1.96美元。大多数婴儿缺乏甲状腺功能减退症的临床体征或症状；在检测前，只有一名婴儿临床上怀疑患有甲状腺功能减退症。最常见的新生儿症状是便秘、嗜睡和黄疸持续时间延长，而最常见的体征是肌张力低下、脐疝和囟门大。甲状腺扫描显示最常见的病因是甲状腺发育不全，其次是异位甲状腺、甲状腺发育不良和甲状腺肿。甲状腺发育不全的婴儿血清T4浓度最低，异位甲状腺或甲状腺发育不良的婴儿血清T4浓度中等，甲状腺肿的婴儿血清T4浓度正常。新生儿甲状腺功能减退症程度各异，病因多样；甲状腺激素分泌能力、甲状腺功能减退症出现临床症状前的持续时间以及最终的智力功能预后可能取决于潜在病因的性质。虽然治疗的平均年龄为59天，但在1月龄时诊断先天性甲状腺功能减退症并治疗受影响婴儿的目标似乎是现实的。
