单基因突变致激素不敏感综合征的研究进展  

Research progress in hormone insensitivity syndrome caused by single gene mutation

作　　者：曲玉清[1] 王安平[1] 王先令[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌科,北京100853

出　　处：《国际内分泌代谢杂志》2017年第1期59-62,共4页International Journal of Endocrinology and Metabolism

摘　　要：激素不敏感是指内分泌腺体激素分泌能力正常，但是靶器官或组织对激素无反应或反应低下，结果导致相应浓度的激素无法发挥正常作用。激素不敏感综合征是指由于激素不敏感导致血清相应激素水平较高而激素作用明显降低的一系列复杂临床综合征。目前研究已经证实，许多激素不敏感综合征是明确的单基因突变所导致的遗传性疾病。临床上最为常见的激素不敏感综合征包括雄激素不敏感综合征、甲状旁腺激素不敏感综合征、甲状腺激素不敏感综合征、重度胰岛素不敏感综合征等。Hormone insensitivity refers that endocrine glands have normal function while the target organs or tissues have no or low response to such hormones, resulting in dysfunction of hormones. Hormones insensitivity syndrome is a complex clinical disorder characterized by impaired hormone function, however with high level of such hormone. It has been confirmed that such hormones insensitivity syndrome was genetic disease caused by single gene mutation. In clinical work, the most common hormones insensitivity syndrome include androgen insensitivity syndrome, parathyroid hormone insensitivity syndrome, thyroid hormone insensitivity syndrome, severe insulin insensitivity syndrome, etc.

关 键 词：激素不敏感综合征 基因突变 受体 

分 类 号：R596[医药卫生—内科学]