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

• Published in: Internal Medicine Vol. 42; no. 11; pp. 1117 - 1121
• Main Authors: TAKAGI, Junko, OTAKE, Kazuo, TAKAHASHI, Masahiko, NAKAO, Naoki, HIROOKA, Yoshifumi, SAHASHI, Ko, NOGIMORI, Tsuyoshi
• Format: Journal Article
• Language: English
• Published: Tokyo The Japanese Society of Internal Medicine 01.11.2003; Japanese Society of Internal Medicine
• Subjects: Arnold-Chiari Malformation - blood; Biological and medical sciences; chiari-I; Functional investigation of endocrine glands and genital system; growth hormone insensitivity syndrome; Growth Hormone-Releasing Hormone - metabolism; Human Growth Hormone - blood; Humans; Insulin-Like Growth Factor Binding Protein 3 - blood; Insulin-Like Growth Factor I - metabolism; Investigative techniques, diagnostic techniques (general aspects); Levodopa; Magnetic Resonance Imaging; Male; Malformations of the nervous system; Medical sciences; Middle Aged; Neurology; Pituitary Hormones - blood; Sequence Analysis, DNA; syringomyelia; Syringomyelia - blood; Somatotropin hormone; Male; chiari-1; Protein hormone; Arnold Chiari malformation; Clinical biology; Adult; Diagnosis; Hormonal investigation; Human; Nervous system diseases; Age 40-49; Exploration; Congenital disease; Nuclear magnetic resonance imaging; Differential diagnostic; Cerebral disorder; Case study; Symptomatology; Syringomyelia; Adenohypophyseal hormone; Malformation; Central nervous system disease; Medical imagery; Spinal cord disease; growth hormone insensitivity syndrome
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.42.1117

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