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.

CONCLUSION:

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: Marcia C Peck, Brendan C Visser, Jeffrey A Norton, Lezlee Pasche, Laurence Katznelson
• Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists (Endocr Pract) 2010 Mar-Apr Vol. 16 Issue 2 Pg. 198-204 ISSN: 1934-2403 [Electronic] United States
• PMID: 19833579 (Publication Type: Journal Article)

Chemical References

• Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
• PRKAR1A protein, human

Topics

• Adolescent
• Adrenal Cortex Diseases (genetics)
• Carney Complex
• Cyclic AMP-Dependent Protein Kinase RIalpha Subunit (genetics)
• Female
• Genetic Predisposition to Disease (genetics)
• Humans
• Mutation
• Pedigree
• Pigmentation Disorders (genetics)