Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity

Research output: Chapter in Book/Report/Conference proceedingConference contribution

9 Citations (Scopus)

Abstract

The central feature of growth hormone (GH) insensitivity is deficiency of insulin-like growth factor-1 (IGF-1) in association with elevated GH secretion. This condition is also known as primary IGF deficiency. There are currently four known genetic causes of GH insensitivity/primary IGF deficiency: GH receptor deficiency (also known as Laron syndrome or GH insensitivity syndrome), IGF-1 deficiency, signal transducer and activator of transcription 5b (STAT5b) deficiency and acid labile subunit (ALS) deficiency. Despite sharing the classical biochemical features of GH insensitivity, the phenotype in each of these conditions is quite distinct. This review will discuss each of these causes in turn, highlighting the insights these rare causes of growth failure afford into the functioning of the human GH-IGF-1 axis.

Original languageEnglish (US)
Title of host publicationEndocrine Development
Pages6-15
Number of pages10
Volume11
DOIs
StatePublished - 2007

Publication series

NameEndocrine Development
Volume11
ISSN (Print)14217082
ISSN (Electronic)16622979

Fingerprint

Laron Syndrome
Growth Hormone
Somatomedins
STAT5 Transcription Factor
Human Growth Hormone
Phenotype
Acids
Growth

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health
  • Endocrinology
  • Endocrine and Autonomic Systems
  • Medicine(all)

Cite this

Woods, K. K. (2007). Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity. In Endocrine Development (Vol. 11, pp. 6-15). (Endocrine Development; Vol. 11). https://doi.org/10.1159/000111053

Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity. / Woods, Kathryn (Katie).

Endocrine Development. Vol. 11 2007. p. 6-15 (Endocrine Development; Vol. 11).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Woods, Kathryn (Katie). / Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity. Endocrine Development. Vol. 11 2007. pp. 6-15 (Endocrine Development).
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