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

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

12 Scopus citations


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 publicationCongenital Endocrinopathies
Subtitle of host publicationNew Insights into Endocrine Diseases and Diabetes Workshop
EditorsRenata Lorini, Giuseppe D'Annunzio, Mohamad Maghnie, Sandro Loche, Martin Savage
Number of pages10
StatePublished - 2007

Publication series

NameEndocrine Development
ISSN (Print)1421-7082
ISSN (Electronic)1662-2979

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology
  • Endocrine and Autonomic Systems


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