Diagnostic yield of genetic testing in children with short stature: a systematic review
Genetic testing substantially improves the diagnostic process in children with isolated and syndromic short stature. Diagnostic yield varies by testing modality and phenotype, with higher rates observed using comprehensive genomic methods and in individuals with dysmorphic or syndromic features. Frequently implicated genes highlight common biological pathways involved in growth regulation, underscoring the utility of genetic evaluation in this population.
Authors
- Despoina Galetaki (ORCID: https://orcid.org/0000-0002-8943-0386)
- Gheun‐Ho Kim (ORCID: https://orcid.org/0000-0002-8445-9892)
- J. Schoones
- Laurana P Cellin
- O. Nilsson
- Alexander A. L. Jorge
- Raíssa Carneiro Rezende
- Melanie Babinski
- Olaf M Dekkers
- Ana M Santillan-Vasconez
- Renata C Scalco
- Jan M Wit
- Andrew Dauber
Institutions
- University of Rome Tor Vergata (IT)
- George Washington University Hospital (US)
- Boston Children's Hospital (US)
- Children's National (US)
- George Washington University (US)
- University of Michigan (US)
- Leiden University Medical Center (NL)
- Aarhus University Hospital (DK)
- Karolinska Institutet (SE)
- Bambino Gesù Children's Hospital (IT)
- Willem-Alexander Kinderziekenhuis (NL)
- Children's Hospital at Montefiore (US)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- Boston Children's Museum (US)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2026-01-14
- DOI
- https://doi.org/10.1093/ejendo/lvag011
- Citations
- 1
- Primary Topic
- Growth Hormone and Insulin-like Growth Factors
- Type
- article
- Field-Weighted Citation Impact
- 30.73