Jeffrey Norton
Publication Details
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A Novel PRKAR1A Mutation Associated with Primary Pigmented Nodular Adrenocortical Disease and the Carney Complex.
Endocr Pract. 2009: 1-22Objective: 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 yo woman presented with symptoms and physical findings suggestive of hypercortisolemia, in addition to facial lentigines. She was found to have ACTH-independent Cushing's syndrome. The adrenal glands were normal by CT scan. Bilateral surgical adrenalectomy revealed PPNAD. Evaluation of her 14 yo sister revealed ACTH-independent Cushing's syndrome as well as facial lentigines, and adrenalectomy revealed PPNAD as well. Genetic testing of the sisters and mother (who also had multiple facial lentigines but did not have Cushing's 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's syndrome and screening for Carney complex and its complications is recommended in all cases of PPNAD, including first-degree relatives.
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