Department of Clinical Medicine and Surgery, University of Naples "Federico II", Via S. Pansini, 5 - 80131 Naples, Italy.
J Endocrinol Invest. 2013 Sep;36(8):654-64. doi: 10.3275/8973. Epub 2013 May 22.
Congenital hypothyroidism (CH) is a frequent disease occurring with an incidence of about 1/2500 newborns/year. In 80-85% of the cases CH is caused by alterations in thyroid morphogenesis, generally indicated by the term "thyroid dysgenesis" (TD). TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated. In these cases, mutations in genes playing a role during thyroid morphogenesis (NKX2-1, PAX8, FOXE1, NKX2-5, TSHR) have been reported.
This work reviews the main steps of thyroid morphogenesis and all the genetic alterations associated with TD and published in the literature.
先天性甲状腺功能减退症（CH）是一种常见疾病，发病率约为每 2500 名新生儿中有 1 例。80-85%的 CH 是由甲状腺形态发生改变引起的，通常被称为“甲状腺发育不良”（TD）。TD 通常是一种散发性疾病，但约 5%的病例具有遗传起源。在这些情况下，已经报道了在甲状腺形态发生过程中起作用的基因（NKX2-1、PAX8、FOXE1、NKX2-5、TSHR）发生突变。
本研究综述了甲状腺形态发生的主要步骤以及文献中报道的与 TD 相关的所有遗传改变。
