A Novel PRKAR1A Mutation Associated With Primary Pigmented Nodular Adrenocortical Disease and the Carney Complex |
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| Institution: | 1. Departments of Medicine,;2. Departments of Surgery,;3. Departments of Pathology,;4. Departments of Neurosurgery, Stanford University School of Medicine, Stanford, California.;1. From the Endocrine Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel;2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. |
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| Abstract: | ObjectiveTo delineate the genetic and phenotypic features of Carney complex in a family with multiple cases of primary pigmented nodular adrenocortical disease (PPNAD).MethodsDetailed clinical, laboratory, genetic, radiologic, and pathologic findings are presented, and the pertinent literature is reviewed.ResultsA 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.ConclusionWe 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. (Endocr Pract. 2010;16:198-204) |
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