Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome

J Pediatr Endocrinol Metab. 2005 Feb;18(2):209-13. doi: 10.1515/jpem.2005.18.2.209.

Abstract

Laron syndrome, growth hormone (GH) insensitivity syndrome, caused by a mutation of the GH receptor (GHR) gene, is extremely rare in the Chinese population. We report a Chinese girl diagnosed with Laron syndrome at age 1.9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR, not previously described, was identified at the donor splice site of intron 6.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Anthropometry
  • Asian People*
  • Carrier Proteins / blood
  • Child, Preschool
  • China
  • Female
  • Growth Disorders
  • Growth Hormone / blood
  • Humans
  • Infant
  • Infant, Newborn
  • Insulin-Like Growth Factor Binding Proteins / blood
  • Insulin-Like Growth Factor I / analysis
  • Insulin-Like Growth Factor I / deficiency*
  • Laron Syndrome / ethnology
  • Laron Syndrome / genetics*
  • Point Mutation / genetics*
  • Receptors, Somatotropin / genetics*

Substances

  • Carrier Proteins
  • Insulin-Like Growth Factor Binding Proteins
  • Receptors, Somatotropin
  • Insulin-Like Growth Factor I
  • Growth Hormone
  • somatotropin-binding protein