Article
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.
Internal medicine (Tokyo, Japan) - 1 Jan 2016
Mineo Ryohei, Tamba Sachiko, Yamada Yuya, Okita Tomonori, Kawachi Yusuke, Mori Reiko, Kyo Mitsuaki, Saisho Kenji, Kuroda Yohei, Yamamoto Koji, Furuya Akiko, Mukai Tokuo, Maekawa Takashi, Nakamura Yasuhiro, Sasano Hironobu, Matsuzawa Yuji
Abstract excerpt
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...
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