Wales等曾报道婴儿甲状腺机能减低(简称甲低)并发各种先天畸形的发病率很高。作者对在新英格兰筛查中确诊的297例散发性甲低患儿合并先天畸形的情况进行了分析(表1、2)。讨论甲低伴三体综合征已为众所周知,其中Down综合征最为常见,而暂时性甲低、代偿性甲状腺疾病、特发性永久性甲低及继发于桥本甲状腺炎的甲低均常见。Fernhoff等曾报告,100例受筛查的甲低病儿中见到1例21-三体,Banforth等报告筛查出的34例甲低病人中,有1例9-三体和1例21-三体。这有两种可能性:一是甲低作为该综合征的一部分;二是甲低继发于该综合征,可能与免疫异常有 Wales et al have reported a high incidence of congenital malformations in infants with hypothyroidism (hypothyroidism). The authors analyzed congenital malformations in 297 children with sporadic hypothyroidism diagnosed in the New England screening (Table 1, 2). Discussion of hypothyroidism with trisomy syndrome has been well-known, of which Down syndrome is the most common, and temporary hypothyroidism, compensatory thyroid disease, idiopathic permanent hypothyroidism and hypothyroidism secondary to Hashimoto’s thyroiditis common. Fernhoff et al. Reported that in one of 100 cases of hypothyroidism who were screened, one case of 21-trisomy was found. Of the 34 cases of hypothyroidism screened by Banforth et al, one had trisomy 9 and one case had 21 - Three body. There are two possibilities: First, hypothyroidism as part of the syndrome; second hypothyroidism secondary to the syndrome, may be associated with abnormal immune