Abstract | 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 frequent endocrine disease observed in CNC. CASE DESCRIPTION: CONCLUSION:
|
Authors | Florian W Kiefer, Yvonne Winhofer, Donato Iacovazzo, Márta Korbonits, Stefan Wolfsberger, Engelbert Knosp, Franz Trautinger, Romana Höftberger, Michael Krebs, Anton Luger, Alois Gessl |
Journal | European journal of endocrinology
(Eur J Endocrinol)
Vol. 177
Issue 2
Pg. K7-K12
(Aug 2017)
ISSN: 1479-683X [Electronic] England |
PMID | 28522647
(Publication Type: Case Reports, Journal Article)
|
Copyright | © 2017 European Society of Endocrinology. |
Chemical References |
- Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
- PRKAR1A protein, human
|
Topics |
- Adult
- Carney Complex
(complications, diagnostic imaging, genetics)
- Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
(genetics)
- Humans
- Male
- Mutation
(genetics)
- Pituitary ACTH Hypersecretion
(complications, diagnostic imaging, genetics)
|