title: Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia.
abstract: BACKGROUND
  Ataxia telangiectasia (A-T) is a devastating human recessive disorder characterised by progressive cerebellar ataxia, immunodeficiency, genetic instability, and cancer susceptibility. In addition, many patients suffer from growth failure.
  
  
  METHODS
  We analyzed growth and IGF-1/BP3 levels of 24 A-T-patients compared with an age-matched group of healthy controls (n = 36).
  
  
  RESULTS
  Ten (41.7%) A-T patients and none of healthy controls had an IGF-1 level below the 3rd percentile for age. The growth hormone (GH) stimulation tests revealed a severe GH deficiency with no increase of >5 ng/ml in six of the ten A-T patients. The IGF-1 generation tests revealed normal increases in IGF-1 values in all patients.
  
  
  CONCLUSIONS
  Our results show that a disturbance in the GH/IGF-1 axis was present in 58.3% of A-T patients. Low levels of GH were the result of reduced central GH secretion. GH treatment may be a therapeutic option for A-T patients with severe growth failure.
authors: Department of Allergology, Pneumology and Cystic Fibrosis, Children's Hospital, Goethe-University Theodor-Stern Kai , Frankfurt/Main , Germany .
authors: Sandra
authors: S
authors: Voss
authors: Julia
authors: J
authors: Pietzner
authors: Franziska
authors: F
authors: Hoche
authors: Alexander Malcolm R
authors: AM
authors: Taylor
authors: James I
authors: JI
authors: Last
authors: Ralf
authors: R
authors: Schubert
authors: Stefan
authors: S
authors: Zielen
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000097:blood* / Q000175:diagnosis / Q000473:pathology; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D019382:Human Growth Hormone / Q000097:blood / Q000172:deficiency*; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D008297:Male
chemical_list: C515497:IGFBP3 protein, human; D018972:Insulin-Like Growth Factor Binding Protein 3; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I
keywords: Ataxia telangiectasia; IGF-1; IGF-BP3; growth hormone deficiency