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Update on new GH-IGF axis genetic defects.

Gabriela A Vasques1,2, Nathalia L M Andrade1,2, Fernanda A Correa2

  • 1Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

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Summary
This summary is machine-generated.

Genetic defects impact the growth hormone-insulin-like growth factor 1 (GH-IGF-1) axis, leading to growth retardation. This review details genetic defects in the GH-IGF-1 axis discovered in the past decade.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • The somatotropic axis, comprising growth hormone (GH) and insulin-like growth factor 1 (IGF-1), is crucial for human growth.
  • Advances in sequencing have identified numerous genes influencing the GH-IGF-1-bone pathway.
  • Over forty gene defects are known to impair the somatotropic axis, affecting GH secretion or IGF-1 bioavailability and action.

Purpose of the Study:

  • To review genetic defects affecting the GH-IGF-1 axis.
  • To focus on defects reported in the last decade.

Main Methods:

  • Literature review focusing on genetic defects impacting the somatotropic axis.
  • Analysis of studies published within the last decade.

Main Results:

  • Defects in over forty genes have been linked to somatotropic axis impairment.
  • These genetic defects result in a heterogeneous group of conditions causing growth retardation.
  • The review specifically highlights genetic defects identified in the past decade.

Conclusions:

  • Genetic defects are a significant cause of growth retardation through disruption of the GH-IGF-1 axis.
  • Continued research is essential for understanding the full spectrum of genetic causes affecting growth.