Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Sep;5(3):277-282.
doi: 10.3892/br.2016.729. Epub 2016 Jul 29.

Gene mutations in Cushing's disease

Qi Xiong  1 , Wei Ge  2
Affiliations

Gene mutations in Cushing's disease

Qi Xiong et al. Biomed Rep. 2016 Sep.

Abstract

Cushing's disease (CD) is a severe (and potentially fatal) disease caused by adrenocorticotropic hormone (ACTH)-secreting adenomas of the pituitary gland (often termed pituitary adenomas). The majority of ACTH-secreting corticotroph tumors are sporadic and CD rarely appears as a familial disorder, thus, the genetic mechanisms underlying CD are poorly understood. Studies have reported that various mutated genes are associated with CD, such as those in menin 1, aryl hydrocarbon receptor-interacting protein and the nuclear receptor subfamily 3 group C member 1. Recently it was identified that ubiquitin-specific protease 8 mutations contribute to CD, which was significant towards elucidating the genetic mechanisms of CD. The present study reviews the associated gene mutations in CD patients.

Keywords: Cushing's disease; adrenocorticotropic hormone; gene mutation; pituitary adenomas.

PubMed Disclaimer

References

    1. Syro LV, Rotondo F, Ramirez A, Di Ieva A, Sav MA, Restrepo LM, Serna CA, Kovacs K. Progress in the diagnosis and classification of pituitary adenomas. Front Endocrinol (Lausanne) 2015;6:97. - PMC - PubMed
    1. Cushing H. The basophil adenomas of the pituitary body and their clinical manifestations (pituitary basophilism) 1932. Obes Res. 1994;2:486–508. doi: 10.1002/j.1550-8528.1994.tb00097.x. - DOI - PubMed
    1. Herman V, Fagin J, Gonsky R, Kovacs K, Melmed S. Clonal origin of pituitary adenomas. J Clin Endocrinol Metab. 1990;71:1427–1433. doi: 10.1210/jcem-71-6-1427. - DOI - PubMed
    1. Daly AF, Beckers A. Update on the treatment of pituitary adenomas: Familial and genetic considerations. Acta Clin Belg. 2008;63:418–424. doi: 10.1179/acb.2008.086. - DOI - PubMed
    1. Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010;78:457–463. doi: 10.1111/j.1399-0004.2010.01406.x. - DOI - PMC - PubMed