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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
07:56

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Published on: January 29, 2018

Healthy short stature.

Alexander A L Jorge1, Paulo F Collett-Solberg2, Margaret C S Boguszewski3

  • 1Universidade de São Paulo Faculdade de Medicina Hospital das Clínicas São Paulo SP Brasil Unidade de Endocrinologia Genética (LIM25), Divisão de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.

Archives of Endocrinology and Metabolism
|June 29, 2026
PubMed
Summary
This summary is machine-generated.

Idiopathic short stature (ISS) is being redefined. Most children labeled with ISS may have "Healthy Short Stature," representing normal growth variation, not a disease.

Keywords:
Short staturegeneticheightidiopathic

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Area of Science:

  • Pediatrics
  • Genetics
  • Endocrinology

Background:

  • Idiopathic short stature (ISS) has been a diagnosis for children below -2 SDS without a clear cause for over 50 years.
  • ISS has evolved from a pragmatic exclusion diagnosis to a recognized condition influencing clinical guidelines and growth hormone therapy.
  • Advances in genomic technologies reveal genetic causes for many previously classified ISS cases, challenging the diagnosis's validity.

Purpose of the Study:

  • To review the historical context and current application of the ISS diagnosis.
  • To evaluate the impact of modern genetic testing on classifying short stature.
  • To propose redefining most ISS cases as "Healthy Short Stature".

Main Methods:

  • Literature review of the historical evolution of ISS.
  • Analysis of the impact of genomic technologies on short stature classification.
  • Conceptual redefinition of ISS based on current genetic and biological understanding.

Main Results:

  • Genomic advancements increasingly identify specific genetic causes for short stature, undermining the 'idiopathic' nature of ISS.
  • The construct of ISS is becoming unstable and misleading as etiological discoveries expand.
  • A significant proportion of children diagnosed with ISS may represent the lower end of normal growth variation.

Conclusions:

  • The term "Healthy Short Stature" is proposed for children with short stature and no underlying systemic, syndromic, or endocrine disease.
  • Adopting "Healthy Short Stature" can reduce stigma and align clinical practice with contemporary growth biology.
  • This reclassification supports ongoing genetic investigation and provides a more accurate framework for research and health policy.