Towards a shared diagnostic approach for pediatric short stature: a Delphi consensus of the Italian Society of Pediatrics and the Italian Society for Pediatric Endocrinology and Diabetology
Italian paediatric endocrinology societies (Delphi) · 2026 · Europe
Source and licence
- Authors
- Chiara Mameli, Stefano Cianfarani, Luisa De Sanctis et al.
- Title
- Towards a shared diagnostic approach for pediatric short stature: a Delphi consensus of the Italian Society of Pediatrics and the Italian Society for Pediatric Endocrinology and Diabetology
- Journal
- Italian Journal of Pediatrics, 2026
- Licence
- CC BY 4.0
- Changes
- Verbatim excerpts; formatting adapted
Full text retrieved 2026-10-27 from Europe PMC · PMC12882444
Licence statement of the original publication
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Recommendations
Verbatim, with grade of recommendation or strength of consensus where given.
Topic 4. Genetic investigation (statements 11–14)
- Statement 11, involving the role of Pediatric Endocrinology centers in the management of children with short stature, reached the consensus in the second Delphi round. The scientific panel suggested that tertiary Pediatric Endocrinology centers provide all the necessary competences for this stepwise diagnostic approach ultimately leading to genetic tests in selected cases. Genetic and/or epigenetic tests should be performed in the diagnostic assessment of specific groups of children whose phenotype suggests a high likelihood of a genetic cause. For this reason, an experienced Pediatric Endocrinologist should be the case manager of children with severe short stature potentially secondary to a genetic defect [3]. Genetic characterization of severe forms of short stature may allow to: (1) start growth hormone treatment in specific disorders; (2) provide information about potential associated conditions that may require treatment; (3) prevent growth hormone treatment in cancer predisposing genetic alterations (e.g. Bloom syndrome); (4) provide a definitive diagnosis thus satisfying patients, caregivers and physicians; (5) lead to the identification of additional affected family members; (6) give genetic counselling and, finally, (7) open avenues for new treatment modalities based on genomics (e.g. C-natriuretic peptide analogue for achondroplasia).
Abstract
Background: Short stature is a common reason for referral in pediatric practice, but significant variability exists in diagnostic approaches and referral criteria. Therefore, the aim of this consensus was to improve the management of children with short stature through the knowledge and expertise of various Italian centers through a Delphi-consensus process.
Methods: A multidisciplinary scientific board of 11 experts and 1 patient advocate were involved in a consensus process and used the Delphi method. The scientific board identified 4 key domains regarding short stature: clinical evaluation, biochemical assessment, imaging and genetic investigation. Two literature searches were conducted. The first search aimed to identify international guidelines and consensus on the diagnosis of short stature in children. The second search sought to retrieve clinical studies focusing on the four domains. The results of the literature searches were evaluated by the scientific board and a total of 14 statements were drafted and submitted to a panel of 39 pediatricians and pediatric endocrinologists using a two-round Delphi method conducted between February and March 2025. Consensus was defined as ≥ 80% agreement or disagreement (scores 7–9 or scores 1–3 on a 9-point Likert scale).
Results: In the first Delphi round, 34 out of 39 experts responded (response rate 87%), and consensus was reached on 11 out of 14 statements. The remaining 3 statements were revised by the scientific board and re-submitted. In the second round, 34 of 34 eligible experts responded (100%), and consensus was achieved for one additional statement. Overall, a strong agreement was reached for 12 out of 14 statements.
Conclusion: This consensus provides valuable insights and recommendations to guide pediatricians in approaching a child with short stature. By addressing clinical, biochemical, imaging and genetic domains this consensus provides a model of growth monitoring that may result in early detection and appropriate management of children with short stature.
Supplementary Information: The online version contains supplementary material available at 10.1186/s13052-025-02190-6.
Contents of the original publication
The section headings of the original.
- Introduction
- Methods
- Literature search
- Areas of debate
- Delphi study design
- Questionnaire and survey
- Results
- Discussion
- Topic 1. Clinical evaluation (statements 1–4)
- Topic 2. Biochemical assessment (statements 5–6)
- Topic 3. Imaging domain (statements 7–10)
- Topic 4. Genetic investigation (statements 11–14)
- Strengths and limitations
- Conclusions
- Appendix 1
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