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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Aggrecanopathies highlight the need for genetic evaluation of ISS children

Ola Nilsson1,2

  • 1Division of Pediatric Endocrinology & Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.

European Journal of Endocrinology
|May 16, 2020
PubMed

Insights

Genetic testing is identifying specific causes for short stature in children previously diagnosed with idiopathic short stature (ISS). This advances the assessment, counseling, and treatment of non-endocrine growth disorders.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Skeletal Dysplasias

Background:

  • Short stature is a common referral reason for pediatric endocrinologists.
  • Idiopathic short stature (ISS) is diagnosed when no underlying cause is found, often after extensive evaluation.
  • Advances in genetic testing are revealing monogenic causes for ISS.

Purpose of the Study:

  • To highlight how genetic discoveries are transforming the understanding and management of short stature.
  • To illustrate the impact of identifying specific genetic mutations in children with ISS.

Main Methods:

  • Review of recent genetic studies in pediatric short stature cohorts.
  • Focus on aggrecan gene mutations (MIM#165800) as an example.

Main Results:

  • Genetic methodology has identified specific monogenic conditions within the ISS population.
  • Heterozygous aggrecan gene mutations cause isolated short stature and advanced bone age, potentially with osteoarthritis and osteochondritis dissecans.

Conclusions:

  • Genetic advancements are crucial for diagnosing previously unexplained short stature.
  • Identifying specific genetic causes like aggrecan mutations improves patient assessment, counseling, and treatment strategies for non-endocrine growth disorders.

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