ACTH-independent Cushing′s syndrome caused by a GNAS hotspot mutation: Case reports of two rare patients with McCune-Albright syndrome complicated by Cushing′s syndrome and literature review
- VernacularTitle:GNAS基因热点突变引起的ACTH非依赖性库欣综合征：两例罕见的McCune-Albright综合征合并库欣综合征的病例报告及文献回顾
- Author:
Ziwei CHEN
1
;
Congcong XIA
1
;
Ning PAN
1
;
Zhuozhou CUI
1
;
Li JIANG
1
;
Ni ZHEN
1
;
Yuan XIAO
1
;
Zhiya DONG
1
;
Xiaoyu MA
1
;
Wenli LU
1
Author Information
- Publication Type:Journal Article
- Keywords: McCune-Albright syndrome; GNAS gene; Adrenocorticotropic hormone-independent Cushing′s syndrome
- From: Chinese Journal of Endocrinology and Metabolism 2025;41(6):497-504
- CountryChina
- Language:Chinese
- Abstract: McCune-Albright syndrome(MAS) is a postzygotic somatic mutation disorder caused by activating mutations in the GNAS gene, which encodes the α subunit of the stimulatory G protein. Its clinical features typically include polyostotic fibrous dysplasia, cafe-au-lait skin pigmentation, and endocrine hyperactivity, such as Cushing′s syndrome, hyperthyroidism, and growth hormone excess. Here, we report two rare cases of MAS complicated with adrenocorticotropic hormone(ACTH)-independent Cushing syndrome, and provide a review and analysis of previously reported MAS cases associated with Cushing′s syndrome.
