Acromegaly of the Carney Complex Patient : Case Report

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  • Sakakibara Yohtaro
    Division of Neurosurgery, St Marianna University Yokohama City Seibu Hospital
  • Nakamura Homare
    Division of Neurosurgery, St Marianna University Yokohama City Seibu Hospital
  • Onodera Hidetaka
    Division of Neurosurgery, St Marianna University Yokohama City Seibu Hospital
  • Kawaguchi Kimiyuki
    Division of Neurosurgery, St Marianna University Yokohama City Seibu Hospital
  • Aida Yoshio
    Department of Pathology, St Marianna University Yokohama City Seibu Hospital

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  • カーニー複合患者に発症した先端巨大症の1例

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Abstract

<p>  Carney complex (CNC) has been defined as “a complex of spotty skin pigmentations, cardiac myxomas, and endocrine overactivity.” It is inherited in an autosomal dominant manner. The incidence of acromegaly has been estimated at less than 15% in patients with CNC. We report a patient with acromegaly who had an overt family history of CNC.</p><p>  A 20-year-old woman volunteered to undergo mutation analysis for the PRKAR1A gene that showed mutations its exon 2 in genomic DNA isolated from leukocytes. She manifested spotty skin, labial pigmented lesions on the face, and enlargement of her nose and mandible. Though she was found to have normal levels of growth hormone and insulin-like growth factor-Ⅰ, her oral glucose tolerance test result was abnormal. Magnetic resonance imaging revealed a tiny, minutely enhanced area on the left side in the sella turcica. During the transsphenoidal surgery, degenerated gray-white tissues were observed in the pituitary gland and were extirpated for pathology.</p><p>  Immunohistochemical studies of the specimen revealed the typical pattern seen with CNC growth hormone (GH) tumors, displaying the deletion of the PRKAR1A gene. Postoperatively, the results of the oral glucose tolerance test became normal, and no additional treatment was administered.</p><p>  Although CNC is a hereditary syndrome of considerable importance to neurosurgeons, many neurosurgeons are not aware of it because of its rarity. Therefore, this report attracts special attention to the importance of clinical and genetic manifestation in CNC patients since they are predisposed to GH adenomas.</p>

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