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Challenges in the Management of Short Stature

Jesús Argente1

  • 1Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, and CIBER de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.

Hormone Research in Paediatrics
|December 10, 2015
PubMed

Insights

Human growth assessment is crucial for health. Evaluating short stature (SS) involves auxological parameters and understanding genetic factors, with therapeutic options available.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Human growth is a dynamic health indicator, influenced by genetics, hormones, nutrition, and environment.
  • Short stature (SS) evaluation lacks international consensus, complicating diagnosis and management.
  • Auxological parameters are key for assessing SS, whether diagnosed or idiopathic.

Purpose of the Study:

  • To outline the complexities in evaluating short stature (SS) in children.
  • To discuss the genetic underpinnings and classification of SS.
  • To present an algorithm for SS evaluation and available therapeutic options.

Main Methods:

  • Review of auxological parameters for assessing growth in children.
  • Analysis of monogenic diseases and genetic skeletal disorders associated with SS.
  • Discussion of diagnostic algorithms and treatment strategies for SS.

Main Results:

  • Numerous monogenic diseases causing proportionate SS have been identified, linked to growth hormone and IGF pathways.
  • The Nosology and Classification of Genetic Skeletal Disorders encompasses 436 conditions.
  • Diagnostic and therapeutic approaches for SS are evolving.

Conclusions:

  • Accurate assessment of human growth is vital for identifying potential health issues like short stature.
  • Understanding the genetic basis of SS is crucial for diagnosis and targeted therapies.
  • A structured approach to evaluating SS, incorporating genetic insights, aids in management.

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