International guideline on genetic testing of children with short stature

European Journal of Endocrinology 2026 Open access

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Authors: Andrew Dauber, Alexander A.L. Jorge, O. Nilsson, Olaf M Dekkers, Jesús Argente, Irène Netchine, Philippe Backeljauw, Jeffrey Baron, Débora Romeo Bertola, Peter Clayton, Justin H Davies, Thomas Edouard
+22 more Thomas Eggermann, Evelien F Pease Gevers, Giedré Grigelioniené, Karen E. Heath, Youn Hee Jee, Pablo Lapunzina, Geert Mortier, Stepanka Pruhova, Helen L. Storr, Emma Wakeling, Carlos R Ferreira, Tomonobu Hasegawa, Anita Hokken-Koelega, Agnès Linglart, Xiaoping Luo, X W Wang, Vivian Hwa, Louise Gregory, Federica Buonocore, Mehul Dattani, Stefano Cianfarani, Jan M Wit
DOI: 10.1093/ejendo/lvag013
Cited by: 11
References: 102

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.

Fields of Study & Subjects

Growth Hormone and Insulin-like Growth Factors Folate and B Vitamins Research Connective tissue disorders research

Publication details

Journal / source
European Journal of Endocrinology
Publisher
Oxford University Press (OUP)
Volume
194
Issue
2
Pages
R17–R36
Publication date
14 January 2026
Language
EN