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

    Research output: Contribution to journalArticlepeer-review

    2 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)2433-2438
    Number of pages6
    JournalInternal Medicine
    Volume55
    Issue number17
    DOIs
    Publication statusPublished - 2016

    Keywords

    • Cushing’s syndrome
    • Primary pigmented nodular adrenocortical disease (PPNAD)
    • Type Iα regulatory subunit of protein kinase A (PRKAR1A)

    ASJC Scopus subject areas

    • Internal Medicine

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