Colombo M L, Bona G, Quaglia P, Zaffaroni M, Maina D, Luotti D
Divisione Universitaria di Pediatria, Ospedale S. Luigi Gonzaga, Orbassano, Torino.
Minerva Pediatr. 1992 Jan-Feb;44(1-2):11-6.
The aim of the present study was to evaluate thyroid function in 45 Down's syndrome patients in order to verify the hypothesis of an increased risk of thyroid disorders associated with trisomy 21. A patient with subclinical hypothyroidism (TSH 16.6 microU/ml; T4 6.4 micrograms/dl) was diagnosed in a group of 28 subjects with Down's syndrome studied at a mean age of 6 years and 5 months using T3, T4, FT3, FT4, TSH assays and clinical examination. T4 and TSH values were also measured in 10 of these children at the neonatal screening. One infant presented transient neonatal hyperthyrotropinemia but later became euthyroid. The analysis of thyroid hormone values at the neonatal screening of other 17 subjects with Down's syndrome did not reveal other cases with thyroid function disorders. The results of this study highlight that altered thyroid functions are evident in children with trisomy 21 associated with heart anomalies. A careful clinico-endocrinological follow-up of patients with Down's syndrome is recommended in order to ensure an early diagnosis of thyroid function disorders and/or autoimmune diseases which might complicate the evolution of trisomy and negatively affect outcome.
本研究的目的是评估45例唐氏综合征患者的甲状腺功能，以验证与21三体相关的甲状腺疾病风险增加这一假说。在一组平均年龄为6岁5个月的28例唐氏综合征患者中，通过T3、T4、FT3、FT4、TSH检测及临床检查，诊断出1例亚临床甲状腺功能减退患者（促甲状腺激素[TSH] 16.6微单位/毫升；甲状腺素[T4] 6.4微克/分升）。对其中10名儿童在新生儿筛查时也检测了T4和TSH值。1名婴儿出现短暂性新生儿促甲状腺激素血症，但后来甲状腺功能恢复正常。对其他17例唐氏综合征患者进行新生儿筛查时的甲状腺激素值分析未发现其他甲状腺功能障碍病例。本研究结果表明，21三体且伴有心脏异常的儿童中甲状腺功能改变明显。建议对唐氏综合征患者进行仔细的临床内分泌随访，以确保早期诊断可能使三体综合征病情复杂化并对预后产生负面影响的甲状腺功能障碍和/或自身免疫性疾病。
