中枢性甲状腺功能减退症鲜为人知的方面：第2部分 - 先天性病因。
Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies.
作者信息
Benvenga Salvatore, Klose Marianne, Vita Roberto, Feldt-Rasmussen Ulla
机构信息
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Master Program on Childhood, Adolescent and Women's Endocrine Health, University of Messina, Messina, Italy.
出版信息
J Clin Transl Endocrinol. 2018 Sep 27;14:5-11. doi: 10.1016/j.jcte.2018.09.004. eCollection 2018 Dec.
Abstract
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor.
摘要
中枢性甲状腺功能减退症（CH）的发病率约为1/50000，因此预计比原发性甲状腺功能减退症罕见一千倍。尽管其在普通人群中较为罕见，但在某些疾病中更为常见，在这些疾病中它常与其他垂体激素缺乏症相关。本文旨在对先天性CH（发病率<1/50000）的发生率及其病因进行更新综述，不考虑由其他遗传缺陷引起的CH，如参与垂体器官发生的转录因子突变或编码促甲状腺激素释放激素（TRH）或TRH受体的基因突变。
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