Carney complex: an update.
Eur J Endocrinol
; 173(4): M85-97, 2015 Oct.
Article
in En
| MEDLINE
| ID: mdl-26130139
ABSTRACT
Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment and molecular etiology, including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing's syndrome.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cushing Syndrome
/
Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
/
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
/
Carney Complex
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
En
Journal:
Eur J Endocrinol
Journal subject:
ENDOCRINOLOGIA
Year:
2015
Document type:
Article
Affiliation country:
United States