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Growth hormone deficiency: a possible complication of glucose transporter 1 deficiency?

Yu Nakagama1, Tsuyoshi Isojima, Yoko Mizuno

  • 1Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.

Acta Paediatrica (Oslo, Norway : 1992)
|January 19, 2012
PubMed

Insights

Glucose transporter 1 deficiency syndrome (GLUT1DS) can lead to growth failure. Growth hormone deficiency (GHD) may complicate GLUT1DS, but growth hormone therapy can improve growth rates in affected children.

Area of Science:

  • Neurology
  • Endocrinology
  • Metabolic disorders

Background:

  • Glucose transporter 1 deficiency syndrome (GLUT1DS) is a rare inherited metabolic disorder affecting brain glucose uptake.
  • The full clinical spectrum, including growth and endocrine aspects, is not well-characterized.

Observation:

  • A 12-year-old boy with GLUT1DS presented with significant growth failure (height -3.6 SDS).
  • Diagnostic evaluation revealed severe growth hormone deficiency (GHD).

Findings:

  • The patient received growth hormone (GH) replacement therapy.
  • GH therapy led to a substantial increase in growth rate, from 1.7 cm/year to 7.5 cm/year and 4.3 cm/year over two years, with no adverse effects.

Implications:

  • Growth hormone deficiency (GHD) is a potential complication of GLUT1DS.
  • Early diagnosis and intervention with GH therapy may improve growth outcomes in children with GLUT1DS and GHD.
Abstract

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