Growth hormone treatment in patients with ataxia telangiectasia

Abstract

Introduction: Ataxia telangiectasia (A-T) is a devastating autosomal recessive disorder with chromosomal instability and growth failure. Low levels of growth hormone (GH) and growth factors may be related to advanced neurological deterioration, wasting syndrome and more pronounced immunodeficiency.Objective: The objective of this study is to study safety and effectiveness of GH therapy in patients with A-T and evaluate the effect of GH on ataxia and lymphocyte subsets.Methods: Three patients with classical A-T were treated with GH (0.3 mg/kg/d) for 1 year. Growth rate, ataxia score and lymphocyte subsets were monitored.Results: GH treatment was well tolerated. All patients showed a significant increase of height SDS of +1.3 (mean height SDS −1.994), a mean increase of 8 (6–11) cm/12 months. Lymphocytes subsets and ataxia were not altered before and after GH treatment.Conclusions: Treatment with GH is feasible and effective in A-T patients with severe growth arrest, but no effect on ataxia and lymphocytes could be recorded.