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Genetics of short stature
Ruxandra Nicolae1,2, Ruta Navardauskaite2,3, Youn Hee Jee2,4
1George Washington University School of Medicine and Health Sciences.
Current Opinion in Pediatrics
|July 14, 2025
Summary
Genetic testing advances diagnose short stature in children, identifying new gene variants. This enables personalized treatments, improving outcomes and avoiding ineffective therapies for better precision medicine.
Area of Science:
- Pediatric Endocrinology
- Clinical Genetics
- Molecular Biology
Background:
- Short stature in children presents diagnostic challenges.
- Genetic factors play a significant role in various forms of short stature.
- Advances in genetic testing are improving diagnostic capabilities.
Purpose of the Study:
- To review recent genetic discoveries in short stature.
- To highlight therapeutic advancements for managing short stature.
- To emphasize the importance of genotype-specific treatments.
Main Methods:
- Review of recent genetic sequencing studies.
- Analysis of emerging targeted pharmacologic agents.
- Evaluation of growth hormone response data in genetic short stature.
Main Results:
- Identification of novel pathogenic variants in genes like FBN1, IHH, and FGFR3.
- Genetic testing shows up to 33% diagnostic yield in idiopathic short stature.
- Targeted therapies (e.g., vosoritide) show promise for genetically defined conditions like achondroplasia.
Conclusions:
- Routine genetic testing enhances diagnostic accuracy for short stature.
- Precision therapy based on genetic findings improves patient outcomes.
- Personalized medicine approaches avoid ineffective treatments and guide management.
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