| A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. | |
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MedLine Citation:
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PMID: 19833579 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Marcia C Peck; Brendan C Visser; Jeffrey A Norton; Lezlee Pasche; Laurence Katznelson |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists Volume: 16 ISSN: 1934-2403 ISO Abbreviation: Endocr Pract Publication Date: 2010 Mar-Apr |
Date Detail:
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Created Date: 2010-03-30 Completed Date: 2010-06-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9607439 Medline TA: Endocr Pract Country: United States |
Other Details:
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Languages: eng Pagination: 198-204 Citation Subset: IM |
Affiliation:
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Department of Medicine, Stanford University School of Medicine, Stanford, California 94305-5821, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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* |
| Chemical | |
Reg. No./Substance:
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0/Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; 0/PRKAR1A protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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