Genetics of normal and abnormal thyroid development in humans
Genetics of normal and abnormal thyroid development in humans
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DOI：
10.1016/j.beem.2013.08.005
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发表时间：
2014-03-01
影响因子：
7.4
通讯作者：
Szinnai, Gabor
中科院分区：
文献类型：
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作者：
Szinnai, Gabor
先天性甲状腺功能减退症最常见的原因是甲状腺发育不良。甲状腺发育不良概括了一系列胚胎甲状腺发育异常，从甲状腺完全缺失（甲状腺萎缩）到正常位置但过小的甲状腺（甲状腺发育不全）或异常位置的甲状腺（异位）。虽然被认为是一种散发性疾病，但近年来已经描述了孤立性或综合征性甲状腺发育不良的不同遗传形式。然而，甲状腺发育不良（TD）的遗传学大多不遵循简单的孟德尔模式，除了单基因外，还需要考虑多基因和表观遗传机制。本文将重点介绍甲状腺器官发生的分子机制、不同单基因形式甲状腺发育不良的临床和遗传学特征、患者家庭诊断和咨询的相关方面以及目前的研究策略，以进一步了解正常和异常甲状腺发育的非中位机制。(C) 2013 Elsevier Ltd.版权所有。
The most frequent cause of congenital hypothyroidism is thyroid dysgenesis. Thyroid dysgenesis summarizes a spectrum of developmental abnormalities of the embryonic thyroid ranging from complete absence of the thyroid gland (athyreosis), to a normally located but too small thyroid (hypoplasia), or an abnormally located thyroid gland (ectopy). Although considered a sporadic disease, distinct genetic forms of isolated or syndromic thyroid dysgenesis have been described in recent years. However, genetics of thyroid dysgenesis (TD) are mostly not following simple Mendelian patterns, and beside monogenic, multigenic and epigenetic mechanisms need to be considered.The review will highlight the molecular mechanisms of thyroid organogenesis, clinical and genetic features of the different monogenetic forms of thyroid dysgenesis, the aspects relevant for diagnosis and counseling of affected families and current research strategies to get more insight into the non-Medelian mechanisms of normal and abnormal thyroid development. (C) 2013 Elsevier Ltd. All rights reserved.