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先天性甲状腺功能减退症的已知与未知:2022年更新

Knowns and unknowns about congenital hypothyroidism: 2022 update.

作者信息

Itonaga Tomoyo, Hasegawa Yukihiro, Higuchi Shinji, Satoh Mari, Sawada Hirotake, Shimura Kazuhiro, Takahashi Ikuko, Takubo Noriyuki, Nagasaki Keisuke

机构信息

Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan.

Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

出版信息

Clin Pediatr Endocrinol. 2023;32(1):11-25. doi: 10.1297/cpe.2022-0016. Epub 2022 Nov 18.

Abstract

Several excellent guidelines and expert opinions on congenital hypothyroidism (CH) are currently available. Nonetheless, these guidelines do not address several issues related to CH in detail. In this review, the authors chose the following seven clinical issues that they felt were especially deserving of closer scrutiny in the hope that drawing attention to them through discussion would help pediatric endocrinologists and promote further interest in the treatment of CH. 1. How high should the levothyroxine (L-T4) dose be for initial treatment of severe and permanent CH? 2. What is the optimal method for monitoring treatment of severe CH? 3. At what level does maternal iodine intake during pregnancy affect fetal and neonatal thyroid function? 4. Does serum thyroglobulin differ between patients with a dual oxidase 2 () variants and those with excess iodine? 5. Who qualifies for a genetic diagnosis? 6. What is the best index for distinguishing transient and permanent CH? 7. Is there any cancer risk associated with CH? The authors discussed these topics and jointly edited the manuscript to improve the understanding of CH and related issues.

摘要

目前有几份关于先天性甲状腺功能减退症(CH)的优秀指南和专家意见。尽管如此,这些指南并未详细阐述与CH相关的几个问题。在本综述中,作者选择了以下七个临床问题,他们认为这些问题尤其值得更深入的审视,希望通过讨论引起关注能帮助儿科内分泌学家,并促进对CH治疗的进一步关注。1. 对于重度和永久性CH的初始治疗,左甲状腺素(L-T4)剂量应多高?2. 监测重度CH治疗的最佳方法是什么?3. 孕期母体碘摄入量在何种水平会影响胎儿和新生儿的甲状腺功能?4. 双氧化酶2()变体患者与碘过量患者的血清甲状腺球蛋白有差异吗?5. 谁有资格进行基因诊断?6. 区分暂时性和永久性CH的最佳指标是什么?7. CH是否存在任何癌症风险?作者讨论了这些主题并共同编辑了手稿,以增进对CH及相关问题的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812a/9887299/29d1576d25dc/cpe-32-011-g001.jpg

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