A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease

A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented wi...

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Bibliographic Details
Main Authors: Sira Korpaisarn, Objoon Trachoo, Bhakbhoom Panthan, Rangsima Aroonroch, Ronnarat Suvikapakornkul, Chutintorn Sriphrapradang
Format: Article
Language:English
Published: Karger Publishers 2017-08-01
Series:Case Reports in Oncology
Subjects:
Adrenal adenoma
Cushing syndrome
Mutation
Penetrance
Splice site
Online Access:http://www.karger.com/Article/FullText/479585

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