二十年后：对血浆甲状腺球蛋白在先天性甲状腺功能减退症婴儿甲状腺发育不全诊断中作用的重新评估
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism.
作者信息
Djemli Anissa, Fillion Marc, Belgoudi Jaafar, Lambert Raymond, Delvin Edgard E, Schneider Wolfgang, Van Vliet Guy
机构信息
Department of Clinical Biochemistry, Sainte-Justine Hospital and Research Center, University of Montreal, Montreal, Qc, Canada.
出版信息
Clin Biochem. 2004 Sep;37(9):818-22. doi: 10.1016/j.clinbiochem.2004.03.011.
BACKGROUND
The definition of the type of thyroid dysgenesis in congenital hypothyroidism (CH), ectopy, or athyreosis is important for monitoring patients and for genetic investigations. We have recently encountered infants who in spite of undetectable Technetium uptake on scintigraphy had biochemical results making athyreosis unlikely.
OBJECTIVE
To reevaluate the utility of plasma thyroglobulin (Tg) in this clinical context using new sensitive Tg assays.
SUBJECTS AND METHODS
Plasma Tg was retrospectively determined by two immunoassay systems on specimens obtained at diagnosis in 31 hypothyroid infants with thyroid dysgenesis.
RESULTS
Scintigraphy led to the diagnosis of ectopy in 19 infants and of athyreosis in 12. Seven (58%) of the infants classified as athyreotic by scintigraphy had detectable plasma Tg (>0.2 microg/l), indicating that they had functional thyroid tissue.
CONCLUSIONS
An undetectable plasma Tg should be documented to validate a scintigraphic diagnosis of athyreosis. Conversely, when plasma Tg is undetectable, scintigraphy could be avoided.
背景
先天性甲状腺功能减退症（CH）中甲状腺发育不全的类型（异位或无甲状腺）的定义对于监测患者和基因研究很重要。我们最近遇到一些婴儿，尽管闪烁扫描未检测到锝摄取，但生化结果显示无甲状腺的可能性不大。
目的
使用新的敏感甲状腺球蛋白（Tg）检测方法重新评估血浆Tg在这种临床情况下的作用。
对象与方法
对31例甲状腺发育不全的甲状腺功能减退婴儿诊断时采集的标本，采用两种免疫分析系统回顾性测定血浆Tg。
结果
闪烁扫描诊断出19例婴儿为异位甲状腺，12例为无甲状腺。闪烁扫描分类为无甲状腺的婴儿中有7例（58%）血浆Tg可检测到（>0.2μg/l），表明他们有功能性甲状腺组织。
结论
应记录血浆Tg检测不到的情况，以验证闪烁扫描诊断为无甲状腺。相反，当血浆Tg检测不到时，可以避免进行闪烁扫描。
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