A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (<i>PRKAR1A</i>) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease

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Author(s)

    • Mineo Ryohei
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Yamamoto Koji
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Furuya Akiko
    • Department of Pediatrics, Asahikawa Medical University, Japan
    • Mukai Tokuo
    • Department of Pediatrics, Asahikawa Kosei General Hospital, Japan
    • Maekawa Takashi
    • Department of Pathology, Tohoku University Graduate School of Medicine, Japan
    • Nakamura Yasuhiro
    • Department of Pathology, Tohoku University Graduate School of Medicine, Japan
    • Sasano Hironobu
    • Department of Pathology, Tohoku University Graduate School of Medicine, Japan
    • Matsuzawa Yuji
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Tamba Sachiko
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Yamada Yuya
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Okita Tomonori
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Kawachi Yusuke
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Mori Reiko
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Kyo Mitsuaki
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Saisho Kenji
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan
    • Kuroda Yohei
    • Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan

Abstract

<p>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 (<i>PRKAR1A</i>) gene; p.E17X (c.49G>T). This confirmed the diagnosis of PPNAD which is associated with Carney Complex. </p>

Journal

  • Internal Medicine

    Internal Medicine 55(17), 2433-2438, 2016

    The Japanese Society of Internal Medicine

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