Good growth response to growth hormone treatment in the ring chromosome 15 syndrome

J Med Genet. 1995 Jun;32(6):486-7. doi: 10.1136/jmg.32.6.486.

Abstract

Ring chromosome 15 syndrome is a rare condition in which severe growth retardation is a major finding. We report a 4 year old boy with the karyotype 46,XY, r(15)(p11.2q26.2) whom we have treated with recombinant human growth hormone (GH) for two years. During the first year of treatment, the insulin-like growth factor I increased from subnormal 4.2 nmol/l to normal 13.8 nmol/l and the insulin-like growth factor binding protein 3 levels increased from 2.6 to 3.8 mg/l, whereas high binding protein 1 concentrations normalised from 52.0 to 16.7 micrograms/l. During the two years of treatment his relative height improved from -6.2 SD to -4.4 SD and the predicted adult height from 159.6 cm to 163.5 cm. Owing to the good growth response, we have decided to continue GH treatment.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / blood
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics*
  • Growth / drug effects
  • Growth Disorders / drug therapy*
  • Growth Disorders / genetics*
  • Growth Hormone / therapeutic use*
  • Humans
  • Insulin-Like Growth Factor Binding Protein 1
  • Insulin-Like Growth Factor Binding Proteins
  • Insulin-Like Growth Factor I / analysis
  • Karyotyping
  • Male
  • Recombinant Proteins / therapeutic use
  • Ring Chromosomes*
  • Syndrome

Substances

  • Carrier Proteins
  • Insulin-Like Growth Factor Binding Protein 1
  • Insulin-Like Growth Factor Binding Proteins
  • Recombinant Proteins
  • Insulin-Like Growth Factor I
  • Growth Hormone