title: Growth hormone deficiency: a possible complication of glucose transporter 1 deficiency?
abstract: Glucose transporter 1 deficiency syndrome (GLUT1DS) is an autosomal dominant disorder of brain energy metabolism caused by impaired GLUT1-mediated glucose transport across the blood-brain barrier. Although the clinical spectrum of this disorder is expanding rapidly, the growth patterns and endocrine status of these patients are not well known. We report the case of a boy aged 12 years and 7 months who has GLUT1DS complicated by growth failure. His failure to grow had progressed since birth, and his body height was 125 cm (-3.6 SDS). Growth hormone stimulation tests showed severe growth hormone deficiency (GHD), and we initiated GH replacement therapy. After 2 years of treatment, the boy's growth rate recovered from 1.7 cm/year before treatment, to 7.5 cm/year and 4.3 cm/year after treatment with no adverse effects. We speculate that GHD is a possible complication of GLUT1DS and discuss the underlying causative mechanism.
  
  
  CONCLUSIONS
  GHD may be a possible complication of GLUT1DS.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Nakagama
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Isojima
authors.forename: Yoko
authors.initials: Y
authors.lastname: Mizuno
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Takahashi
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kitanaka
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
mesh_terms: D002648:Child; D044882:Glucose Metabolism Disorders / Q000150:complications*; D051272:Glucose Transporter Type 1 / Q000172:deficiency*; D006130:Growth Disorders / Q000209:etiology*; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male
chemical_list: D051272:Glucose Transporter Type 1; D013006:Growth Hormone