Exome findings in children with short stature evaluated by growth hormone stimulation testing
Authors' conclusion
The limited correlation between GHST results and genetic findings highlights the diagnostic value of ES. Integrating genetic testing into the evaluation of short stature can enhance etiological understanding and support personalized management, particularly in ISS cases and decisions regarding GH therapy.
Study context
- Population
- Children with short stature evaluated by growth hormone (GH) stimulation testing
- Participants
- 60 children
- Comparison
- Exome sequencing across GH stimulation test peak strata
- Group an = 20
- Group bn = 20
- Group cn = 20
- Outcome
- Diagnostic value of exome sequencing (ES) (disease-causing variants)
Performance
As reported in the abstract
Disease-causing variants
Group a
1
events
Group b
4
events
Group c
3
events
- Disease-causing variants, all children
- 8/60 (13.3%)
Further findings
Candidate variants of uncertain significance potentially linked to short stature
- Variants detected
- 14
- Children with such variants
- 13 (21.6%)
Original publication
Exome findings in children with short stature evaluated by growth hormone stimulation testing. Eur J Endocrinol. Published 19 February 2026. doi:10.
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