A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)
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DOI：
10.1111/j.1365-2265.2009.03568.x
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发表时间：
2009-11-01
影响因子：
3.2
通讯作者：
Persani, Luca
中科院分区：
文献类型：
--
作者：
Corbetta, Carlo;Weber, Giovanna;Persani, Luca
国家临床生物化学学会的指南提倡使用低血点TSH（b-TSH）阈值筛查新生儿先天性甲状腺功能减退症（CH）。通过应用该适应症产生的影响在很大程度上是unknown. ObjectiveDetermination the impact on CH epidemiology and classification generated by introduction of low b-TSH cutoff.DesignRetrospective study of 629,042 neonatal screened with b-TSH cutoff of 12（years 1999-2002）or 10 mU/l（2003-2005）.MeasurementsCongenital hyperthyroidism incidence and classification.结果与以前的临界值（20 mU/l）实际获得的结果进行了比较。L-T4退出后的一个代表性的组140 CH children at 3-5 years.ResultsLow b-TSH cutoffs允许检测435新生儿确诊CH（发病率1：1446）的临床重新评估。45%的CH婴儿，包括12/141的发育不全，使用20 mU/l的临界值会被遗漏。与目前的分类相比，32%的CH新生儿有甲状腺发育不全，68%有原位腺体（GIS）。早产是目前在20%的情况下，与GIS CH的风险增加3-5倍。重新评估在3-5年显示永久性甲状腺功能障碍的78%的59 CH幼儿与GIS.ConclusionsThe使用低b-TSH截止允许检测到一个未知的新生儿甲状腺功能减退症的儿童数量，在生活中发展为轻度永久性甲状腺功能障碍以后。在这个意大利人群中CH的发病率似乎是以前认为的两倍，功能缺陷的患病率明显高于遗传缺陷。
P>ContextThe guidelines of the National Academy of Clinical Biochemistry advocated the use of low bloodspot TSH (b-TSH) threshold for newborn screening of congenital hypothyroidism (CH). The impact generated by the application of this indication is largely unknown.ObjectiveTo determine the impact on CH epidemiology and classification generated by the introduction of low b-TSH cutoff.DesignRetrospective study of 629,042 newborns screened with b-TSH cutoffs of 12 (years 1999-2002) or 10 mU/l (2003-2005).MeasurementsCongenital hypothyroidism incidence and classification. Results were compared with those virtually obtained with the previous cutoff (20 mU/l). Clinical re-evaluation after L-T4 withdrawal of a representative group of 140 CH children at 3-5 years.ResultsLow b-TSH cutoffs allowed the detection of 435 newborns with confirmed CH (incidence 1:1446). Forty-five percent of CH infants, including 12/141 dysgenesis, would have been missed using the 20 mU/l cutoff. In contrast to current classification, 32% CH newborns had thyroid dysgenesis and 68% had a gland in situ (GIS). Premature birth was present in 20% of cases being associated with a 3-5 fold increased risk of GIS CH. Re-evaluation at 3-5 years showed a permanent thyroid dysfunction in 78% of 59 CH toddlers with GIS.ConclusionsThe use of low b-TSH cutoff allowed the detection of an unsuspected number of children with neonatal hypothyroidism, evolving in mild permanent thyroid dysfunction later in life. The incidence of CH in this Italian population appears to be double than previously thought with a clear-cut prevalence of functional defects over dysgenetic ones.