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Updated: Jun 3, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
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IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development

Irène Netchine1, Salah Azzi, Yves Le Bouc

  • 1APHP, Hôpital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France. irene.netchine@trs.aphp.fr

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

Insights

Genetic defects in insulin-like growth factor-I (IGF-I) cause rare growth retardation, deafness, and intellectual deficits. Early diagnosis and recombinant IGF-I treatment are crucial for managing this condition.

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Human genetic insulin-like growth factor-I (IGF-I) defects lead to a rare syndrome.
  • This syndrome is characterized by intrauterine and postnatal growth retardation, sensorineural deafness, and intellectual deficit.

Purpose of the Study:

  • To describe the phenotype associated with human genetic IGF-I defects.
  • To highlight the importance of IGF-I signaling for normal growth and brain development.

Main Methods:

  • Clinical case descriptions and genetic analysis of affected individuals.
  • Review of reported cases and clinical features.

Main Results:

  • The syndrome includes growth retardation, sensorineural deafness, and intellectual deficit.
  • Additional features can include microcephaly, adiposity, insulin resistance, gonadal dysfunction, and osteoporosis.
  • Autosomal recessive inheritance is caused by homozygous mutations in the IGF1 gene.

Conclusions:

  • Integrity of IGF-I signaling is essential for normal growth and brain development.
  • Recombinant IGF-I is an available treatment option for patients with IGF-I deficiency.

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