International guideline on genetic testing of children with short stature

Short stature may be caused by a multitude of conditions, including genetic and non-genetic causes. Over the last decade, advances in genetic sequencing technologies have revolutionized our understanding of the underlying physiology of growth and greatly increased our ability to identify genetic etiologies of short stature. The current guideline provides a general overview of the approach to the evaluation of a child with short stature, followed by recommendations identifying factors in the medical and family history, physical examination, radiographic, and laboratory work up which increase the likelihood of identifying a genetic etiology. An algorithm is proposed for the genetic workup of individuals with short stature based on their clinical presentation. The benefits and risks of genetic testing are discussed as well.

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Publication Details

Journal
European Journal of Endocrinology
Published
2026-01-14
DOI
https://doi.org/10.1093/ejendo/lvag013
Citations
2
Primary Topic
Growth Hormone and Insulin-like Growth Factors
Type
article
Field-Weighted Citation Impact
61.46
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article

International guideline on genetic testing of children with short stature

Federica Buonocore, Karen Elise Heath, Vivian Hwa, Geert R. Mortier et al.
2 citations
European Journal of Endocrinology
Growth Hormone and Insulin-like Growth Factors
61.46
article

International guideline on genetic testing of children with short stature

Federica Buonocore, Karen Elise Heath, Vivian Hwa, Geert R. Mortier, Louise Gregory, Helen L. Storr, Irène Netchine, Débora Romeo Bertola, Pablo Lapunzina, X W Wang, O. Nilsson, Youn Hee Jee, Andrew Dauber, Jeffrey Baron, Evelien F Pease Gevers, Agnès Linglart, Alexander A. L. Jorge, Xiaoping Luo, Olaf M Dekkers, Philippe Backeljauw, Emma Wakeling, Jesús Argente, Peter Clayton, Thomas Eggermann, Tomonobu Hasegawa, Jan M Wit, Thomas Edouard, Carlos R Ferreira, Justin H Davies, Giedre Grigelioniene, Anita Hokken-Koelega, Stepanka Pruhova
article en
2 citations

Abstract

Short stature may be caused by a multitude of conditions, including genetic and non-genetic causes. Over the last decade, advances in genetic sequencing technologies have revolutionized our understanding of the underlying physiology of growth and greatly increased our ability to identify genetic etiologies of short stature. The current guideline provides a general overview of the approach to the evaluation of a child with short stature, followed by recommendations identifying factors in the medical and family history, physical examination, radiographic, and laboratory work up which increase the likelihood of identifying a genetic etiology. An algorithm is proposed for the genetic workup of individuals with short stature based on their clinical presentation. The benefits and risks of genetic testing are discussed as well.

European Journal of EndocrinologyVol. 194(2)
University of Rome Tor Vergata (IT), Cincinnati Children's Hospital Medical Center (US), George Washington University Hospital (US), Karolinska University Hospital (SE), Children's National (US), Inserm (FR), Queen Mary University of London (GB), George Washington University (US), Keio University (JP), Charles University (CZ), Barts Health NHS Trust (GB), Université Paris-Saclay (FR), Leiden University Medical Center (NL), Great Ormond Street Hospital (GB), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), Hospital Universitario La Paz (ES), Instituto de Salud Carlos III (ES), Erasmus MC (NL), Aarhus University Hospital (DK), Karolinska Institutet (SE), University of Manchester (GB), Sorbonne Université (FR), Hôpital Armand-Trousseau (FR), National Institute of Child Health (HU), Shanghai Children's Medical Center (CN), Assistance Publique – Hôpitaux de Paris (FR), University Hospital in Motol (CZ), Hospital La Paz Institute for Health Research (ES), Center for Human Genetics (US), Centre for Biomedical Network Research on Rare Diseases (ES), Hospital Infantil Universitario Niño Jesús (ES), Centro de Investigación Biomédica en Red (ES), Unidades Centrales Científico-Técnicas (ES), Southampton Children's Hospital (GB), Bambino Gesù Children's Hospital (IT), Willem-Alexander Kinderziekenhuis (NL), Centre de Recherche Saint-Antoine (FR), Institute of Child Health (GR), National Institute of Child Health (PK), ERN GUARD-Heart (NL), Eunice Kennedy Shriver National Institute of Child Health and Human Development (US), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR), William Harvey Research Institute (GB), Tongji Hospital (CN), Instituto de Investigación de Enfermedades Raras (ES), Health and Human Development (2HD) Research Network (CM), Bicêtre Hospital (FR), University College London (GB), Huazhong University of Science and Technology (CN), University of Cincinnati (US), Universidad Autónoma de Madrid (ES), RWTH Aachen University (DE), The University of Osaka (JP), KU Leuven (BE)
Openalex Percentile: Top 0%
Growth Hormone and Insulin-like Growth Factors
61.46
DOIOpen Access PDFOpenAlex
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