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Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics

Primus-E Mullis1

  • 1Division of Paediatric Endocrinology, Diabetology & Metabolism, University Children's Hospital, Inselspital, Bern, Switzerland. primus.mullis@insel.ch

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 15, 2011
PubMed

Insights

Genetic defects causing Growth Hormone Deficiency (GHD) can lead to Insulin-like Growth Factor-I Deficiency (IGFD). This review focuses on GH-gene alterations impacting the pituitary gland and their role in these conditions.

Area of Science:

  • Pediatric Endocrinology
  • Human Genetics
  • Molecular Biology

Background:

  • Childhood growth deviations necessitate evaluation for central nervous system abnormalities and genetic causes of Growth Hormone Deficiency (GHD).
  • Insulin-like Growth Factor-I (IGF-I) deficiency (IGFD) can be a consequence of GHD, impacting the growth hormone-insulin-like growth factor (GHRH-GH-IGF) axis.
  • Distinguishing between GHD (low GH) and IGFD (normal to high GH) is crucial for accurate diagnosis.

Purpose of the Study:

  • To review the role of the Growth Hormone (GH) gene and its alterations in the development of GHD and IGFD.
  • To discuss the impact of GH-gene mutations on pituitary gland function.
  • To explore the effects of alterations in the GHRH, GHRH-receptor, and GH-receptor (GHR) genes.

Main Methods:

  • Literature review focusing on genetic defects affecting the GHRH-GH-IGF axis.
  • Analysis of studies investigating GH-gene mutations and their phenotypic consequences.
  • Examination of research on transcription factors influencing pituitary development and hormone deficiency.

Main Results:

  • Genetic defects in the GH gene are a significant cause of GHD and can lead to IGFD.
  • Alterations in the GH gene can impact pituitary gland development and function.
  • Mutations in GHRH, GHRH-receptor, and GHR genes contribute to disruptions in the GH-IGF axis.

Conclusions:

  • Genetic factors play a critical role in GHD and IGFD, necessitating comprehensive genetic evaluation.
  • Understanding GH-gene alterations is key to diagnosing and managing growth disorders.
  • Further research into the GHRH-GH-IGF axis is essential for advancing pediatric endocrinology.

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