Best Practice & Research Clinical Endocrinology & Metabolism ( IF 6.1 ) Pub Date : 2020-04-02 , DOI: 10.1016/j.beem.2020.101418 Christina Tatsi 1 , Chelsi Flippo 1 , Constantine A Stratakis 1
Cushing syndrome (CS) describes the signs and symptoms caused by exogenous or endogenous hypercortisolemia. Endogenous CS is caused by either ACTH-dependent sources (pituitary or ectopic) or ACTH-independent (adrenal) hypercortisolemia. Several genes are currently known to contribute to the pathogenesis of CS. Germline gene defects, such as MEN1, AIP, PRKAR1A and others, often present in patients with pituitary or adrenal involvement as part of a genetic syndrome. Somatic defects in genes, such as USP8, TP53, and others, are also involved in the development of pituitary or adrenal tumors in a large percentage of patients with CS, and give insight in pathways involved in pituitary or adrenal tumorigenesis.
中文翻译:
库欣综合征:新旧基因。
库欣综合征(CS)描述了由外源性或内源性高皮质醇血症引起的体征和症状。内源性CS由ACTH依赖性来源(垂体或异位)或ACTH非依赖性(肾上腺)高皮质醇血症引起。目前已知几种基因可导致CS的发病。生殖系统基因缺陷,例如MEN1,AIP,PRKAR1A等,通常作为遗传综合征的一部分存在于垂体或肾上腺受累患者中。USP8,TP53等基因的体细胞缺陷也参与了绝大部分CS患者的垂体或肾上腺肿瘤的发展,并深入了解了垂体或肾上腺肿瘤发生的途径。