Department of Pediatric Endocrinology, Columbia University Medical Center, New York, NY.
Neoreviews. 2020 Jan;21(1):e37-e44. doi: 10.1542/neo.21-1-e37.
Congenital hypothyroidism (CH) is one of the most common preventable causes of intellectual disability. Thyroid hormone is required for normal brain development, but neonates with CH typically appear healthy at birth, which leads to delays in diagnosis and treatment. In developed countries, newborn screening programs have led to earlier diagnosis and treatment of CH, resulting in improved neurodevelopmental outcomes. Neonates with an abnormal newborn screen require prompt confirmatory serum thyroid function tests and treatment with thyroid hormone. Further evaluation for the etiology of CH should not delay treatment decisions.
先天性甲状腺功能减退症(CH)是最常见的可预防智力残疾原因之一。甲状腺激素是大脑正常发育所必需的,但患有 CH 的新生儿通常在出生时看起来健康,这导致诊断和治疗的延迟。在发达国家,新生儿筛查计划已经导致 CH 的早期诊断和治疗,从而改善了神经发育结果。新生儿筛查异常的患儿需要及时进行确认性血清甲状腺功能检查和甲状腺激素治疗。进一步评估 CH 的病因不应延迟治疗决策。