Oakley G A, Muir T, Ray M, Girdwood R W, Kennedy R, Donaldson M D
University Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland.
J Pediatr. 1998 Apr;132(4):726-30. doi: 10.1016/s0022-3476(98)70369-5.
We investigated the incidence of congenital malformation in all infants with raised thyroid-stimulating hormone (TSH) levels on neonatal screening in Scotland between August 1979 and December 1993. Of 344 infants with elevated TSH, 31 (9%) had one or more malformations: 12 cardiac 15 noncardiac, and 16 dysmorphic syndromes (including 5 with Down syndrome). Criteria were devised to distinguish between definite or probable congenital hypothyroidism and transient TSH elevation. Congenital hypothyroidism was considered definite in 224 (65.1%) infants and probable in 11 (3.2%). Eighty-eight (25.6%) infants had transient TSH elevation, whereas thyroid status was uncertain in 21 (6.1%). In the definite group 12 (5.4%) infants had one or more malformations compared with 13 (14.8%) in the transient group. Cardiac malformation, noncardiac malformation, dysmorphic syndromes, and "sickness" were much more frequent in the transient compared with the definite group: 5.7% versus 1.8%, 8.0% versus 1.8%, 6.8% versus 2.7%, and 37.5% versus 7.1%, respectively. The incidence of congenital malformation in bonafide congenital hypothyroidism is lower than has been previously reported. The high incidence of congenital malformation associated with transient TSH elevation indicates the need to reevaluate the diagnosis of hypothyroidism in all infants with TSH elevation and concurrent illness or malformation.
我们调查了1979年8月至1993年12月在苏格兰新生儿筛查中促甲状腺激素（TSH）水平升高的所有婴儿的先天性畸形发生率。在344例TSH升高的婴儿中，31例（9%）有一个或多个畸形：12例心脏畸形、15例非心脏畸形和16例畸形综合征（包括5例唐氏综合征）。制定了标准以区分明确或可能的先天性甲状腺功能减退症和短暂性TSH升高。224例（65.1%）婴儿被认为患有明确的先天性甲状腺功能减退症，11例（3.2%）可能患有。88例（25.6%）婴儿有短暂性TSH升高，而21例（6.1%）婴儿的甲状腺状态不确定。在明确组中，12例（5.4%）婴儿有一个或多个畸形，而在短暂组中为13例（14.8%）。与明确组相比，短暂组中心脏畸形、非心脏畸形、畸形综合征和“疾病”更为常见：分别为5.7%对1.8%、8.0%对1.8%、6.8%对2.7%和37.5%对7.1%。真正先天性甲状腺功能减退症中先天性畸形的发生率低于先前报道。与短暂性TSH升高相关的先天性畸形高发生率表明，有必要重新评估所有TSH升高且并发疾病或畸形的婴儿的甲状腺功能减退症诊断。
