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Article

Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.

Human pathology - 1 Jan 2015

Carney J Aidan, Lyssikatos Charalampos, Lodish Maya B, Stratakis Constantine A

Abstract excerpt

We describe the pathology of 5 patients with germline PRKACA copy number gain and Cushing syndrome: 4 males and 1 female, aged 2 to 43 years, including a mother and son. Imaging showed normal or slightly enlarged adrenal glands in 4 patients and a unilateral mass in the fifth. Biochemically, the patients had corticotropin-independent hypercortisolism. Four underwent bilateral adrenalectomy; unilateral...

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Identifiers

PMID: 25449630
DOI: 10.1016/j.humpath.2014.09.005
PMCID: PMC6309372

Genes

PRKACA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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