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Downstream insulin-like growth factor.

Roland Pfäffle¹, Wieland Kiess, Jürgen Klammt

¹Department of Pediatrics, University of Leipzig Medical School, Leipzig, Germany. rpfaeffle@medizin.uni- leipzig.de

Endocrine Development

|November 28, 2012

Summary

Genetic defects in the insulin-like growth factor 1 receptor (IGF-1R) gene cause small for gestational age (SGA) in children, leading to growth failure due to IGF-1 resistance. Variability in mutation impact suggests genetic and environmental factors influence outcomes.

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Area of Science:

Endocrinology
Genetics
Pediatrics

Background:

Genetic defects causing small for gestational age (SGA) were poorly understood until recently.
Mutations in the insulin-like growth factor 1 receptor (IGF-1R) gene were identified as a cause of intrauterine growth retardation.
These patients exhibit IGF-1 resistance, failing to thrive despite normal IGF-1 levels.

Purpose of the Study:

To investigate the impact of IGF-1R gene mutations on intrauterine and postnatal growth.
To understand the variability in clinical features associated with IGF-1R mutations.
To explore the concept of IGF-1 resistance in pediatric growth failure.

Main Methods:

Genetic analysis of patients with SGA.
Functional and structural examination of IGF-1R mutations.
Clinical evaluation of growth and developmental outcomes.

Main Results:

Mutations in the IGF-1R gene are a monogenetic cause of intrauterine growth retardation.
The pathogenic impact of IGF-1R mutations on growth varies.
Variable incidence of features like developmental delay suggests functional redundancy in the IGF-IGF-1R system.

Conclusions:

Defects in the IGF-1 and IGF-1 receptor (IGF-1R) genes account for 10-15% of growth retardation cases.
Genetic background and environmental factors may influence the expression of IGF-1R related phenotypes.
Understanding IGF-1R function is crucial for diagnosing and managing pediatric growth disorders.