A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.

ABSTRACT:

Background

Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis. In many familial cases of BMAH, mutations in armadillo repeat containing 5 (ARMC5), a putative tumor suppressor gene, are thought to induce the disorder. The objective of this study was to report a case in which the patient presented with BMAH induced by a novel heterozygous germline ARMC5 mutation (c. 517C > T, p. Arg173*) alone rather than a two-hit mutation.

Case presentation

A 51-year-old woman was identified with masses in the bilateral adrenals. Serum cortisol levels were increased significantly both in the morning (08:00 AM

SUBMITTER: Liu Q 

PROVIDER: S-EPMC5870939 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature