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Article

Phenotypes, investigation and treatment of primary IGF-1 deficiency.

Endocrine development - 1 Jan 2013

Savage Martin O

Abstract excerpt

GH insensitivity, also known as primary IGF-1 deficiency (PIGFD), presents as growth failure, and in its severe form is associated with dysmorphic and metabolic abnormalities. PIGFD is caused by genetic defects in the GH-IGF-1 axis. The field of PIGFD due to mutations affecting GH action has evolved since the original description of the extreme phenotype related to homozygous GH receptor mutations over 40 years...

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Identifiers

PMID: 23392102
DOI: 10.1159/000342578

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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