Willi S M, Moshang T
University of Pennsylvania, School of Medicine, Philadelphia.
Pediatr Clin North Am. 1991 Jun;38(3):555-66. doi: 10.1016/s0031-3955(16)38117-2.
The natural history of congenital hypothyroidism has changed drastically since the institution of newborn screening in North America, Europe, and Japan. Before screening was available, diagnosis of this condition was often delayed. The IQ of 65% of all patients with congenital hypothyroidism was below 85, and 19% were profoundly retarded (IQ less than 15). In two large screening programs in which long-term IQ data are available, no child has tested below the IQ of 74. Furthermore, a comparison of affected children treated within the first month of life with matched controls demonstrated no significant difference in IQ scores between the two groups. Widespread screening has lead to the evaluation of over 7 million infants annually. This represents over 1200 fewer children with subnormal intelligence, and approximately 360 children annually who are saved from the effects of profound mental retardation. There is little doubt that newborn screening is one of the greatest advances in diagnosis and treatment of endocrine disease in the newborn period to occur in the past 20 years. However, even experienced screening programs are not perfect, so the practitioner must remain alert to the possibility of undiagnosed hypothyroidism presenting in infancy.
自北美、欧洲和日本开展新生儿筛查以来，先天性甲状腺功能减退症的自然病史发生了巨大变化。在可进行筛查之前，这种疾病的诊断常常延迟。所有先天性甲状腺功能减退症患者中，65%的智商低于85，19%存在严重智力发育迟缓（智商低于15）。在两项可获取长期智商数据的大型筛查项目中，没有儿童的智商测试结果低于74。此外，对出生后第一个月内接受治疗的患病儿童与匹配的对照组进行比较发现，两组之间的智商得分没有显著差异。广泛的筛查每年使得超过700万婴儿得到评估。这意味着每年智力发育不正常的儿童减少了1200多名，每年约有360名儿童避免了严重智力发育迟缓的影响。毫无疑问，新生儿筛查是过去20年里新生儿内分泌疾病诊断和治疗方面最重大的进展之一。然而，即使是经验丰富的筛查项目也并非完美无缺，因此从业者必须始终警惕婴儿期出现未被诊断出的甲状腺功能减退症的可能性。
