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Genetic Mutations in the GH/IGF Axis.

Sabina Domené1, Horacio M Domené2

  • 1Centro de Investigaciones Endocrinológicas (CEDIE-CONICET), "Dr. César Bergadá", División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina.

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Summary
This summary is machine-generated.

Genetic defects in the growth hormone/insulin-like growth factor (GH/IGF) axis cause short stature. Next-generation sequencing identifies new variants, but functional studies are needed to confirm their role in growth disorders.

Keywords:
Combined pituitary hormone deficiencyGH insensitivityGenetic defectsIGF-I insensitivityIsolated GH deficiency

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • The growth hormone/insulin-like growth factor (GH/IGF) axis is crucial for growth.
  • Over 48 monogenic defects impact GH/IGF production, secretion, or action, leading to short stature.
  • These defects are categorized into four main groups: combined pituitary hormone deficiency (CPHD), isolated GH deficiency (IGHD), GH insensitivity, and IGF-I insensitivity.

Purpose of the Study:

  • To review the molecular defects of the GH/IGF axis causing short stature.
  • To highlight the diagnostic yield of genetic testing in growth disorders.
  • To discuss the impact of next-generation sequencing (NGS) on identifying genetic variants.

Main Methods:

  • Literature review of monogenic defects affecting the GH/IGF axis.
  • Analysis of genetic diagnosis rates in children with growth retardation.
  • Discussion of the role of NGS in identifying pathogenic variants.

Main Results:

  • Genetic diagnosis is achieved in 30-40% of children with specific growth issues.
  • NGS has identified numerous likely pathogenic variants in known and novel genes.
  • The clinical significance of many identified variants remains undetermined.

Conclusions:

  • Molecular defects in the GH/IGF axis are a significant cause of short stature.
  • NGS has expanded the landscape of genetic variants associated with growth disorders.
  • Functional studies are essential to validate the pathogenicity of newly discovered variants and understand their contribution to short stature.