title: Growth hormone insensitivity syndrome associated with syringomyelia and type I Chiari malformation.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Aichi Medical University School of Medicine, 21 Karimata, Nagakute, Aichi 480-1195.
authors.forename: Junko
authors.initials: J
authors.lastname: Takagi
authors.forename: Kazuo
authors.initials: K
authors.lastname: Otake
authors.forename: Masahiko
authors.initials: M
authors.lastname: Takahashi
authors.forename: Naoki
authors.initials: N
authors.lastname: Nakao
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Hirooka
authors.forename: Ko
authors.initials: K
authors.lastname: Sahashi
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Nogimori
mesh_terms: D001139:Arnold-Chiari Malformation / Q000097:blood*; D013007:Growth Hormone-Releasing Hormone / Q000378:metabolism; D019382:Human Growth Hormone / Q000097:blood*; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D007980:Levodopa; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010907:Pituitary Hormones / Q000097:blood; D017422:Sequence Analysis, DNA; D013595:Syringomyelia / Q000097:blood*
chemical_list: D018972:Insulin-Like Growth Factor Binding Protein 3; D010907:Pituitary Hormones; D019382:Human Growth Hormone; D007980:Levodopa; D007334:Insulin-Like Growth Factor I; D013007:Growth Hormone-Releasing Hormone