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 Mineo, Sachiko Tamba, Yuya Yamada, Tomonori Okita, Yusuke Kawachi, Reiko Mori, Mitsuaki Kyo, Kenji Saisho, Yohei Kuroda, Koji Yamamoto, Akiko Furuya, Tokuo Mukai, Takashi Maekawa, Yasuhiro Nakamura, Hironobu Sasano, Yuji Matsuzawa

研究成果: Article査読

2 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)2433-2438
ページ数6
ジャーナルInternal Medicine
55
17
DOI
出版ステータスPublished - 2016

ASJC Scopus subject areas

  • 内科学

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