Growth hormone insensitivity: diagnostic and therapeutic approaches

J Endocrinol Invest. 2016 Jan;39(1):19-28. doi: 10.1007/s40618-015-0327-2. Epub 2015 Jun 11.

Abstract

Introduction: Growth hormone resistance defines several genetic (primary) and acquired (secondary) pathologies that result in completely or partially interrupted activity of growth hormone. An archetypal disease of this group is the Laron-type dwarfism caused by mutations in growth hormone receptors. The diagnosis is based on high basal levels of growth hormone, low insulin like growth factor-I (IGF-1) level, unresponsiveness to IGF generation test and genetic testing. Recombinant IGF-1 preparations are used in the treatment

Conclusion: In this article, clinical characteristics, diagnosis and therapeutic approaches of the genetic and other diseases leading to growth hormone insensitivity are reviewed.

Keywords: Growth hormone; IGF-1 generation test; Insensitivity; Recombinant IGF-1.

Publication types

  • Review

MeSH terms

  • Drug Resistance* / genetics
  • Growth Disorders / diagnosis*
  • Growth Disorders / drug therapy
  • Growth Disorders / therapy*
  • Growth Hormone / therapeutic use*
  • Human Growth Hormone / genetics
  • Human Growth Hormone / metabolism
  • Humans
  • Insulin-Like Growth Factor Binding Protein 3 / genetics
  • Insulin-Like Growth Factor Binding Protein 3 / metabolism
  • Insulin-Like Growth Factor I / genetics
  • Insulin-Like Growth Factor I / metabolism
  • Laron Syndrome / diagnosis*
  • Laron Syndrome / therapy*
  • Receptors, Somatotropin / genetics

Substances

  • Insulin-Like Growth Factor Binding Protein 3
  • Receptors, Somatotropin
  • Human Growth Hormone
  • Insulin-Like Growth Factor I
  • Growth Hormone