Ronconi G, Tezzele A, De Boni P, Fantuz E, Toniolo S
Pediatr Med Chir. 1981 Mar-Jun;3(2-3):199-202.
Since June 1977 to June 1980 screening program for neonatal hypothyroidism was carried out in the area of Vicence. 6.340 newborns were screening, in the fifth day of life, primarily by measuring T4 levels, later by measuring both T4 and TSH levels in the blood serum. Three babies were proved to have neonatal hypothyroidism: two cases showed athyreotic hypothyroidism, and one case was due to familial thyroid dyshormonogenesis. The incidence of this condition in our area is much higher than 1:3.000 newborns. Two cases of familial deficit of thyroxine-binding globulin and two subjects with partial enzymatic deficiency were also detected.
1977年6月至1980年6月期间,在维琴察地区开展了新生儿甲状腺功能减退筛查项目。对6340名新生儿在出生后第5天进行了筛查,最初通过检测T4水平,之后通过检测血清中的T4和TSH水平。有3名婴儿被证实患有新生儿甲状腺功能减退:2例表现为无甲状腺性甲状腺功能减退,1例是由于家族性甲状腺激素合成障碍。该疾病在我们地区的发病率远高于1:3000新生儿。还检测到2例甲状腺素结合球蛋白家族性缺乏病例和2例部分酶缺乏的受试者。