Scintigraphy using technetium-99m (^99mTc) is the gold standard for imaging the thyroid gland in infants with congenital hypothyroidism (CHT) and is the most reliable method of diagnosing an ectopic thyroid gland. One of the limitations of scintigraphy is the possibility that no uptake is detected despite the presence of thyroid tissue, leading to the spurious diagnosis of athyreosis. Thyroid ultrasound is a useful adjunct to detect thyroid tissue in the absence of ^99mTc uptake. Aims: We aimed to describe the incidence of sonographically detectable in situ thyroid glands in infants scintigraphically diagnosed with athyreosis using ^99mTc and to describe the clinical characteristics and natural history in these infants. Methods: The newborn screening records of all infants diagnosed with CHT between 2007 and 2016 were reviewed. Those diagnosed with CHT and athyreosis confirmed on scintigraphy were invited to attend a thyroid ultrasound. Results: Of the 488 infants diagnosed with CHT during the study period, 18/73 (24.6%) infants with absent uptake on scintigraphy had thyroid tissue visualised on ultrasound (3 hypoplastic thyroid glands and 15 eutopic glands). The median serum thyroid-stimulating hormone (TSH) concentration at diagnosis was significantly lower than that in infants with confirmed athyreosis (no gland on ultrasound and no uptake on scintigraphy) (74 vs. 270 mU/L), and median free T4 concentration at diagnosis was higher (11.9 vs. 3.9 pmol/L). Six of 10 (60%) infants with no uptake on scintigraphy but a eutopic gland on ultrasound had transient CHT. Conclusion: Absent uptake on scintigraphy in infants with CHT does not rule out a eutopic gland, especially in infants with less elevated TSH concentrations. Clinically, adding thyroid ultrasound to the diagnostic evaluation of infants who have athyreosis on scintigraphy may avoid committing some infants with presumed athyreosis to lifelong levothyroxine treatment.
Horm Res Paediatr

中文翻译：

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在闪烁扫描中诊断出患有动脉粥样硬化的婴儿在超声检查中可能存在腺体并患有一过性先天性甲状腺功能减退症

使用锝 99m ( ^99m Tc) 的闪烁扫描是先天性甲状腺功能减退症 (CHT) 婴儿甲状腺成像的金标准，也是诊断异位甲状腺的最可靠方法。闪烁扫描的局限性之一是尽管存在甲状腺组织，但仍有可能检测不到摄取，从而导致误诊为动脉粥样硬化。在没有^99m Tc 摄取的情况下，甲状腺超声是检测甲状腺组织的有用辅助手段。目的：我们的目的是描述使用^99m Tc 进行闪烁扫描诊断为患有甲状腺疾病的婴儿中超声可检测到的原位甲状腺的发生率，并描述这些婴儿的临床特征和自然病程。方法：回顾2007年至2016年间所有确诊为CHT的婴儿的新生儿筛查记录。那些在闪烁扫描中确诊为 CHT 和甲状腺功能减退症的人被邀请参加甲状腺超声检查。结果：在研究期间被诊断为 CHT 的 488 名婴儿中，18/73 (24.6%) 的婴儿在闪烁扫描中未摄取到甲状腺组织（3 个发育不全的甲状腺和 15 个在位腺体）。诊断时血清促甲状腺激素 (TSH) 浓度的中位数显着低于确诊为动脉粥样硬化的婴儿（超声无腺体和闪烁扫描未摄取）（74 vs. 270 mU/L），游离 T4 浓度中位数为诊断更高（11.9 vs. 3.9 pmol/L）。10 名 (60%) 婴儿中有 6 名在闪烁扫描中没有摄取，但在超声检查中发现在位腺体，有短暂的 CHT。结论：在患有 CHT 的婴儿中，闪烁扫描没有摄取并不能排除在位腺体，特别是在 TSH 浓度升高较少的婴儿中。在临床上，将甲状腺超声加入闪烁扫描对患有甲状腺疾病的婴儿的诊断评估中，可以避免一些推定患有甲状腺疾病的婴儿终身接受左旋甲状腺素治疗。
儿科研究