Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease
Ryohei MineoSachiko TambaYuya YamadaTomonori OkitaYusuke KawachiReiko MoriMitsuaki KyoKenji SaishoYohei KurodaKoji YamamotoAkiko FuruyaTokuo MukaiTakashi MaekawaYasuhiro NakamuraHironobu SasanoYuji Matsuzawa
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JOURNALS OPEN ACCESS

2016 Volume 55 Issue 17 Pages 2433-2438

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Abstract

A 40-year-old man presented with Cushing's syndrome due to bilateral adrenal hyperplasia with multiple nodules. Computed tomography scan results were atypical demonstrating an enlargement of the bilateral adrenal glands harboring multiple small nodules, but the lesion was clinically diagnosed to be primary pigmented nodular adrenocortical disease (PPNAD) based on both endocrinological test results and his family history. We performed bilateral adrenalectomy and confirmed the diagnosis histologically. An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p.E17X (c.49G>T). This confirmed the diagnosis of PPNAD which is associated with Carney Complex.

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© 2016 by The Japanese Society of Internal Medicine
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