International guideline on genetic testing of children with short stature

Andrew Dauber, Division of Endocrinology, Children's National Hospital, Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Alexander A. Jorge, Genetic Endocrinology Unit (LIM25), Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Ola Nilsson, Division of Pediatric Endocrinology (ERN BOND, ENDO ERN) and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.
Olaf M. Dekkers, Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.
Jesús Argente, Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús. La Princesa Research Institute. Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain.
Irene Netchine, Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, F-75012, Paris, France.
Philippe Backeljauw, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Jeffrey Baron, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Debora R. Bertola, Medical Genetics Unit, Pediatrics Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Peter Clayton, Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, UK.
Justin H. Davies, Regional Centre for Paediatric Endocrinology, Southampton Children's Hospital; Faculty of Medicine, University of Southampton, UK.
Thomas Edouard, Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism (OSCAR Network, ERN BOND) and Reference Centre for Rare Diseases of Growth (FIRENDO Network, Endo-ERN), Children's Hospital, Toulouse University Hospital.
Thomas Eggermann, Center for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Evelien F. Gevers, Centre for Endocrinology, William Harvey Research Institute, Faculty of Medicine, Barts and The London School for Medicine and Dentistry, Queen Mary University of London, London, UK.
Giedre Grigelioniene, Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Karen E. Heath, Institute of Medical & Molecular (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.
Youn Hee Jee, Division of Endocrinology, Children's National Hospital, Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Pablo Lapunzina, CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid.
Geert Mortier, Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
Stepanka Pruhova, Department of Pediatrics, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Uvalu 84, Prague 5, 150 06, Czech Republic.
Helen L. Storr, Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University London, UK.
Emma Wakeling, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Carlos R. Ferreira, Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Tomonobu Hasegawa, Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Anita Hokken-Koelega, Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Agnes Linglart, Paris Saclay University, AP-HP, INSERM, department of Endocrinology and Diabetes for Children, Bicêtre Paris Saclay Hospital, Le Kremlin Bicêtre, France.
Xiaoping Luo, Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Xiumin Wang, Department of Endocrinology, genetics and metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, China.
Vivian Hwa, Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), The University of Osaka, Suita, Osaka 565-0871, Japan.
Louise C. Gregory, Genetics and Genomic Medicine Research and Teaching Department UCL Great Ormond Street Institute of Child Health 30 Guilford Street, London, UK.
Federica Buonocore, Genetics and Genomic Medicine Research and Teaching Department UCL Great Ormond Street Institute of Child Health 30 Guilford Street, London, UK.
Mehul Dattani, Genetics and Genomic Medicine Research and Teaching Department UCL Great Ormond Street Institute of Child Health 30 Guilford Street, London, UK.

Document Type

Journal Article

Publication Date

1-16-2026

Journal

European journal of endocrinology

DOI

10.1093/ejendo/lvag013

Keywords

genetic causes; genetic syndromes; genome; growth; short stature

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 work up of individuals with short stature based on their clinical presentation. The benefits and risks of genetic testing are discussed as well.

Department

Pediatrics

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