Approach to the Diagnosis and Treatment of Neonatal Hypothyroidism
Approach to the Diagnosis and Treatment of Neonatal Hypothyroidism
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DOI：
10.1210/jc.2011-1175
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发表时间：
2011-10-01
影响因子：
5.8
通讯作者：
LaFranchi, Stephen H.
中科院分区：
文献类型：
--
作者：
LaFranchi, Stephen H.
先天性甲状腺功能减退症的新生儿发病率为 1:3000，是导致智力低下的最常见的可预防原因之一。神经发育结果与诊断和治疗的年龄成反比。通过新生儿筛查计划发现并在生命最初几周内开始服用 L-T-4 的婴儿具有正常或接近正常的神经发育结果。根据体重计算，L-T-4 的推荐起始剂量（10-15 μg/kg.d）高于儿童和成人的剂量。根据甲状腺功能减退症的严重程度调整 L-T-4 的起始剂量将尽快使血清 T-4 和 TSH 恢复正常。在开始治疗之前进行确认性血清甲状腺功能测试非常重要。可以进行进一步的诊断研究，例如放射性核素摄取、扫描和超声检查，以确定甲状腺功能减退症的根本原因。然而，由于这些测试的结果通常不会改变最初的治疗决定，因此很少指出这些诊断研究。发育中的大脑在生命的前 2-3 年内对甲状腺激素有严重依赖；因此，与年龄较大的儿童和成人相比，监测的频率更高。应定期检查血清游离 T-4 和 TSH，以确保及时调整 L-T-4 剂量并将血清游离 T-4 和 TSH 水平保持在目标范围内。鉴于先天性甲状腺功能减退症新生儿的早期检测和治疗取得了成功，公共卫生任务应该是为全球 75% 出生在没有新生儿筛查项目的地区的婴儿制定类似的项目。 （临床内分泌代谢杂志 96：2959-2967，2011）
Congenital hypothyroidism, occurring in 1:3000 newborns, is one of the most common preventable causes of mental retardation. Neurodevelopmental outcome is inversely related to the age of diagnosis and treatment. Infants detected through newborn screening programs and started on L-T-4 in the first few weeks of life have a normal or near-normal neurodevelopmental outcome. The recommended starting dose of L-T-4 (10-15 mu g/kg.d) is higher on a weight basis than the dose for children and adults. Tailoring the starting L-T-4 dose to the severity of the hypothyroidism will normalize serum T-4 and TSH as rapidly as possible. It is important to obtain confirmatory serum thyroid function tests before treatment is started. Further diagnostic studies, such as radionuclide uptake and scan and ultrasonography, may be performed to determine the underlying cause of hypothyroidism. Because results from these tests generally do not alter the initial treatment decision, however, these diagnostic studies are rarely indicated. The developing brain has a critical dependence on thyroid hormone for the first 2-3 yr of life; thus, monitoring occurs at more frequent intervals than in older children and adults. Serum free T-4 and TSH should be checked at intervals frequent enough to ensure timely adjustment of L-T-4 dosing and to keep serum free T-4 and TSH levels in target ranges. Given the success of early detection and treatment of neonates with congenital hypothyroidism, a public health mandate should be to develop similar programs for the 75% of babies worldwide who are born in areas without newborn screening programs. (J Clin Endocrinol Metab 96: 2959-2967, 2011)