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

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概要

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• 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 patients 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.(Internal Medicine 42: 1117-1121, 2003)

• 社団法人 日本内科学会の論文
• 2003-11-01

著者

• Takahashi Masahiko

  Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University

• HIROOKA YOSHIFUMI

  Department of Laboratory Medicine, Aichi Medical University School of Medicine

• Sahashi Ko

  Department of neurology, Aichi medical university

• Sahashi Ko

  Department Of Internal Medicine Division Of Neurology Aichi Medical University School Of Medicine

• Otake Kazuo

  Department Of Internal Medicine Division Of Endocrinology Metabolism And Diabetology Aichi Medical U

• Otake Kazuo

  Department Of Internal Medicine And Laboratory Medicine Aichi Medical University School Of Medicine

• NAKAO NAOKI

  Department of Internal Medicine, Division of Neurology, Aichi Medical University School of Medicine

• TAKAGI Junko

  Department of Laboratory Medicine, Aichi Medical University School of Medicine

• NOGIMORI Tsuyoshi

  Konanshowa Hospital

• Hirooka Yoshifumi

  Department Of Laboratory Medicine Aichi Medical University School Of Medicine

• Nakao Naoki

  Department Of Internal Medicine Division Of Neurology Aichi Medical University School Of Medicine

• Takahashi Masahiko

  Department Of Anesthesiology And Emergency Medicine Tohoku University Postgraduate Medical School

• Takahashi Masahiko

  Department Of Internal Medicine Division Of Neurology Aichi Medical University School Of Medicine

• Takagi Junko

  Department Of Laboratory Medicine Aichi Medical University School Of Medicine

• Takagi Junko

  Department Of Chemistry And Research Center For Materials Science Nagoya University

• HIROOKA Yoshifumi

  Department of Laboratory Medicine

• OTAKE Kazuo

  Department of Endocrinology, Metabolism and Diabetes, Aichi Medical University

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