Genetic causes of short stature in children
DOI:
https://doi.org/10.12775/QS.2024.36.56550Keywords
genetics, genetic diseasesAbstract
One of the essential elements of a visit to a pediatrician is a height measurement, which allows for the presentation of the child's growth tendency. Short stature is defined as a height that is lower than the average of a specific population, adjusted for age and sex, by at least 2 standard deviations, i.e., less than the 3rd percentile. Due to accompanying symptoms or their absence, the suspected etiology may vary. Genetic disorders are significant causes of short stature, especially among pediatric patients. The division distinguishes chromosomal, monogenic and polygenic disorders. Other possible causes of short stature may be the coexistence of chronic diseases or disorders of the endocrine system. In the case when the growth disorder is not a pathological condition, a variant of normal growth is diagnosed. In the diagnosis of short stature, in addition to a physical examination, it is sometimes necessary to perform laboratory or radiological tests, genetic tests, and specialist consultations.
References
Rogol AD, Hayden GF. Etiologies and early diagnosis of short stature and growth failure in children and adolescents. J Pediatr. 2014;164(5 Suppl):S1-14.e6. doi:10.1016/j.jpeds.2014.02.027
Grunauer M, Jorge AAL. Genetic short stature. Growth Horm IGF Res. 2018;38:29-33. doi:10.1016/j.ghir.2017.12.003
Barstow C, Rerucha C. Evaluation of Short and Tall Stature in Children. Am Fam Physician. 2015;92(1):43-50.
Urakami T. Tall stature in children and adolescents. Minerva Pediatr. 2020;72(6):472-483. doi:10.23736/S0026-4946.20.05971-X
Garn SM, Bailey SM, Cole PE. Similarities between parents and their adopted children. Am J Phys Anthropol. 1976;45(3 pt. 2):539-543. doi:10.1002/ajpa.1330450318
Wu X, Cooper RS, Boerwinkle E, et al. Combined analysis of genomewide scans for adult height: results from the NHLBI Family Blood Pressure Program. Eur J Hum Genet. 2003;11(3):271-274. doi:10.1038/sj.ejhg.5200952
Simeone P, Alberti S. Epigenetic heredity of human height. Physiol Rep. 2014;2(6):e12047. Published 2014 Jun 24. doi:10.14814/phy2.12047
Chen WW, Liu HX, Liu J, Yang LL, Liu M, Ma HJ. Zhongguo Dang Dai Er Ke Za Zhi. 2019;21(4):381-386. doi:10.7499/j.issn.1008-8830.2019.04.015
Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res. 2008;18(2):89-110. doi:10.1016/j.ghir.2007.11.004
Gaudino R, De Filippo G, Bozzola E, et al. Current clinical management of constitutional delay of growth and puberty. Ital J Pediatr. 2022;48(1):45. Published 2022 Mar 24. doi:10.1186/s13052-022-01242-5
Zemel BS, Pipan M, Stallings VA, et al. Growth Charts for Children With Down Syndrome in the United States [published correction appears in Pediatrics. 2022 Nov 1;150(5):e2022059568. doi: 10.1542/peds.2022-059568]. Pediatrics. 2015;136(5):e1204-e1211. doi:10.1542/peds.2015-1652
Lagan N, Huggard D, Mc Grane F, et al. Multiorgan involvement and management in children with Down syndrome. Acta Paediatr. 2020;109(6):1096-1111. doi:10.1111/apa.15153
Gravholt CH, Andersen NH, Christin-Maitre S, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024;190(6):G53-G151. doi:10.1093/ejendo/lvae050
Isojima T, Yokoya S. Growth in girls with Turner syndrome. Front Endocrinol (Lausanne). 2023;13:1068128. Published 2023 Jan 12. doi:10.3389/fendo.2022.1068128
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1-18. doi:10.1097/MD.0b013e3182060469
Habel A, McGinn MJ 2nd, Zackai EH, Unanue N, McDonald-McGinn DM. Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet A. 2012;158A(11):2665-2671. doi:10.1002/ajmg.a.35426
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14(1):10-26. doi:10.1038/gim.0b013e31822bead0
Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn. 2017;246(4):291-309. doi:10.1002/dvdy.24479
Binder G, Rappold GA. SHOX Deficiency Disorders. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; December 12, 2005.
Wood AR, Esko T, Yang J, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet. 2014;46(11):1173-1186. doi:10.1038/ng.3097
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Jadwiga Inglot, Julia Inglot, Michał Szczepański, Mateusz Bajak, Dominik Maciej Feret, Maciej Mamczur, Daniel Zapasek, Julia Słowik, Damian Sowa, Marcin Kuliga
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Stats
Number of views and downloads: 174
Number of citations: 0
