Growth Hormone Insensitivity Syndrome Associated with Syringomyelia and Type I Chiari Malformation

DOI Web Site Web Site PubMed 参考文献23件
  • TAKAGI Junko
    he Department of Laboratory Medicine, Division of Endocrinology The Department of Internal Medicine, Division of Endocrinology
  • OTAKE Kazuo
    The Department of Internal Medicine, Division of Endocrinology
  • TAKAHASHI Masahiko
    The Department of Internal Medicine, Division of Neurology, Aichi Medical University School of Medicine
  • NAKAO Naoki
    The Department of Internal Medicine, Division of Neurology, Aichi Medical University School of Medicine
  • HIROOKA Yoshifumi
    he Department of Laboratory Medicine, Division of Endocrinology The Department of Internal Medicine, Division of Endocrinology
  • SAHASHI Ko
    The Department of Internal Medicine, Division of Neurology, Aichi Medical University School of Medicine
  • NOGIMORI Tsuyoshi
    Konanshowa Hospital

書誌事項

タイトル別名
  • Growth Hormone Insensitivity Syndrome Associated with Syringomyelia and Type 1 Chiari Malformation

この論文をさがす

抄録

A 49-year-old man with syringomyelia and a Type I Arnold-Chiari malformation (Chiari-I) was diagnosed with growth hormone insensitivity syndrome (GHIS). He was short in stature, had high circulating levels of GH, and low circulating levels of insulin-like growth factor-I (IGF-I) and IGF binding protein-3 (IGFBP-3). His GH responses to the administration of growth hormone-releasing hormone (GHRH) and L-DOPA were normal, but his levels of IGF-I and IGFBP-3 did not increase after the administration of exogenous GH. Direct genomic DNA sequencing revealed neither a mutation nor deletion in this patient's GH receptor (GHR) gene, though one polymorphism was detected, indicating that his GHR gene was normal. This is the first reported case of an association of GHIS with syringomyelia and Chiari-I malformation.<br>(Internal Medicine 42: 1117-1121, 2003)

収録刊行物

  • Internal Medicine

    Internal Medicine 42 (11), 1117-1121, 2003

    一般社団法人 日本内科学会

参考文献 (23)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ