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Article

PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex.

European journal of endocrinology - 1 Aug 2017

Kiefer Florian W, Winhofer Yvonne, Iacovazzo Donato, Korbonits Márta, Wolfsberger Stefan, Knosp Engelbert, Trautinger Franz, Höftberger Romana, Krebs Michael, Luger Anton, Gessl Alois

Abstract excerpt

CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most...

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PMID: 28522647
DOI: 10.1530/EJE-17-0227

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