A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset
A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset
复制标题
TSHR 中新的 c.1391_1428delinsT 突变是迟发性家族性先天性甲状腺功能减退症的原因
DOI：
10.1016/j.pedneo.2019.11.003
复制
发表时间：
2021
影响因子：
2.1
通讯作者：
Inukai Takeshi
中科院分区：
文献类型：
--
作者：
Watanabe Daisuke;Yagasaki Hideaki;Ishii Sayaka;Mitsui Yumiko;Nakane Takaya;Inukai Takeshi
先天性甲状腺激素生成障碍是先天性甲状腺功能减退症的一种形式。促甲状腺激素（TSH）受体基因（TSHR）是影响TSH受体下调导致ch1的主要基因突变。然而，各种TSHR突变使其难以确定表型。我们报告了一例家族性CH病例，显示出一种新的TSHR突变。
Congenital thyroid dyshormonogenesis is one form of congenital hypothyroidism (CH). The thyroid-stimulating hormone (TSH) receptor gene (TSHR) is a major gene with mutations that influence TSH receptor downregulation leading to CH. 1 However, the various TSHR mutations make it difficult to determine phenotypes. 2 We report a familial case of CH exhibiting a novel TSHR mutation.