Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity.
Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity.
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DOI：
10.1159/000342505
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Chrousos GP
中科院分区：
文献类型：
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作者：
Charmandari E;Kino T;Chrousos GP
家族性或散发性原发性全身性糖皮质激素抵抗或Chrousos综合征是一种罕见的遗传性疾病，其特征是全身性、部分性、靶组织对糖皮质激素不敏感，以及随之而来的下丘脑-垂体-肾上腺（HPA）轴过度活化。原发性全身性糖皮质激素超敏反应（PGGH）是前者的镜像，其特征是对糖皮质激素的全身性、部分性、靶组织超敏反应和HPA轴的代偿性低活化。这两种情况的分子基础已被归因于人糖皮质激素受体（hGR）基因的突变，这损害了hGR作用的分子机制，并改变组织对糖皮质激素的敏感性。本文综述了Chrousos综合征和PGGH的病理生理、分子机制和临床特点。
Familial or sporadic primary generalized glucocorticoid resistance or Chrousos syndrome is a rare genetic condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids and a consequent hyperactivation of the hypothalamic-pituitary-adrenal (HPA) axis. Primary generalized glucocorticoid hypersensitivity (PGGH) represents the mirror image of the former, and is characterized by generalized, partial, target-tissue hypersensitivity to glucocorticoids, and compensatory hypoactivation of the HPA axis. The molecular basis of both conditions has been ascribed to mutations in the human glucocorticoid receptor (hGR) gene, which impair the molecular mechanisms of hGR action and alter tissue sensitivity to glucocorticoids. This review summarizes the pathophysiology, molecular mechanisms and clinical aspects of Chrousos syndrome and PGGH.