title: A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex.
abstract: OBJECTIVE
  To delineate the genetic and phenotypic features of Carney complex in a family with multiple cases of primary pigmented nodular adrenocortical disease (PPNAD).
  
  
  METHODS
  Detailed clinical, laboratory, genetic, radiologic, and pathologic findings are presented, and the pertinent literature is reviewed.
  
  
  RESULTS
  A 17-year-old girl presented with symptoms and physical findings suggestive of hypercortisolemia, in addition to facial lentigines. She was found to have adrenocorticotropic hormone (ACTH)-independent Cushing syndrome. The adrenal glands appeared normal on computed tomographic scanning. Bilateral surgical adrenalectomy revealed PPNAD. Evaluation of her 14-year-old sister revealed ACTH-independent Cushing syndrome as well as facial lentigines, and adrenalectomy revealed PPNAD as well. Genetic testing of the 2 sisters and their mother (who also had multiple facial lentigines but did not have Cushing syndrome) revealed a novel mutation in the PRKAR1A gene.
  
  
  CONCLUSIONS
  We describe a novel mutation in the PRKAR1A gene in a family with Carney complex and multiple members with PPNAD. PPNAD should be suspected in cases of ACTH-independent Cushing syndrome, and screening for Carney complex and its complications is recommended in all cases of PPNAD, including first-degree relatives.
authors.affiliation: Department of Medicine, Stanford University School of Medicine, Stanford, California 94305-5821, USA.
authors.forename: Marcia C
authors.initials: MC
authors.lastname: Peck
authors.forename: Brendan C
authors.initials: BC
authors.lastname: Visser
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Norton
authors.forename: Lezlee
authors.initials: L
authors.lastname: Pasche
authors.forename: Laurence
authors.initials: L
authors.lastname: Katznelson
mesh_terms: D000293:Adolescent; D000303:Adrenal Cortex Diseases / Q000235:genetics*; D056733:Carney Complex; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human