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PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases.

European journal of endocrinology - 1 Jun 2015

Thiel Anne, Reis Anna-Carinna, Haase Matthias, Goh Gerald, Schott Matthias, Willenberg Holger S, Scholl Ute I

Abstract excerpt

OBJECTIVE: Cortisol excess due to adrenal adenomas or hyperplasia causes Cushing's syndrome. Recent genetic studies have identified a somatic PRKACA(L206R) mutation as a cause of cortisol-producing adenomas. We aimed to compare the clinical features of PRKACA-mutant lesions with those of CTNNB1 mutations, and to search for similar mutations in unilateral hyperplasia or tumors co-secreting aldosterone. DESIGN,...

Topics

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Adrenal Cortex Neoplasms
Adrenal Hyperplasia, Congenital
Adrenalectomy
Adrenocortical Adenoma
Aldosterone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Cushing Syndrome

Source

Identifiers

PMID: 25750087
DOI: 10.1530/EJE-14-1113

Genes

PRKACA
CTNNB1
GNAS
KCNJ5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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