关于儿童矮身材研究现状的相关综述
Journal: Basic Medical Theory Research DOI: 10.32629/bmtr.v8i2.18918
Abstract
身高是儿童生长发育的重要指标，受遗传、环境、营养等多因素影响。矮身材不仅影响儿童的生理健康，还可能对其心理社会适应能力产生长期负面影响。近年来，随着家长对身高关注度的提升，矮身材的诊疗需求显著增加，但临床实践中仍存在过度治疗与漏诊并存的问题。本文旨在系统综述儿童矮身材的研究现状，包括流行病学、病因学、诊断技术、治疗进展、临床影响及未来研究方向。
Keywords
矮身材；儿童；遗传与非遗传因素；影响；诊疗策略
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[24] Guillaume, A., Benoit, O., Gourmelen, M., & Richardet, J. M. (1982). Relationship between sleep stage IV deficit and reversible HGH deficiency in psychosocial dwarfism.Pediatric Research, 16(4), 299-303.
[25] Greulich WW, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist[M]. 2nd ed. Stanford: Stanford University Press, 1959.
[26] Tanner JM, Whitehouse RH, Cameron N, et al. Assessment of Skeletal Maturity and Prediction of Adult Height (TW3 Method)[M]. 3rd ed. London: WB Saunders, 2001.
[27] 张绍岩,张继业,刘丽娟,等.中国人手腕骨发育标准-中华05[M].北京:科学出版社,2006.
[28] 陈适,朱惠娟.超声评估骨龄研究现状及临床应用前景[J].协和医学杂志，2025, 16 (2): 245-250.
[29] Lee J, et al. Whole exome sequencing to identify genetic causes of short stature[J]. BMC Medical Genetics, 2014, 15(1): 102.
[30] Gürkan S, et al. Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and SNP-array analyses in a Turkish cohort[J]. European Journal of Medical Genetics, 2025, 68(12): 104786.
[2] Huang S, Chen Z, Chen R, Zhang Z, Sun J, Chen H. Analysis of risk factors and construction of a prediction model for short stature in children. Front Pediatr. 2022 Dec 6;10:1006011.
[3] 黄轲,傅君芬.儿童正常生长规律及其调控机制[J].中国实用儿科杂志, 2021.
[4] Gupta S , Dayal D , Rohit M K ,et al.Comprehensive assessment of cardiovascular disease risk in children with short stature due to isolated growth hormone deficiency: a case-control study[J].Journal of pediatric endocrinology & metabolism : JPEM, 2022, 35(8):1059-1068.
[5] Oh N K , Song Y M , Kim S H ,et al.Short Stature is Associated with Increased Risk of Dyslipidemia in Korean Adolescents and Adults[J].Scientific Reports, 2019, 9(1).
[6] Wittenbecher C , Kuxhaus O , Boeing H ,et al.Associations of short stature and components of height with incidence of type 2 diabetes: mediating effects of cardiometabolic risk factors[J].Diabetologia, 2019, 62(8).
[7] Kochar I , Ramachandran S , Sethi A .Effects of early initiation of growth hormone therapy on different auxological parameters in growth hormone deficient children: Experience from an Indian tertiary care center[J].Indian Journal of Endocrinology and Metabolism, 2021, 25(1):54-.
[8] Juul A, Backeljauw P, Cappa M, et al. Early growth hormone initiation leads to favorable long-term growth outcomes in children born small for gestational age[J]. J Clin Endocrinol Metab, 2023, 108(5): 1043-1052. PMID: 36469726. PMCID: PMC10099159.
[9] Mavinkurve M, Azriyanti AZ, Jalaludin MY. The short child: importance of early detection and timely referrai[J]. Malays Fam Physician, 2021, 16(3): 6-15. PMID: 34938388. PMCID: PMC8680933.
[10] 健康中国行动推进委员会.健康中国行动（2019—2030年）[EB/OL]. (2019-07-15)[2023-08-16]. http://www.gov.cn/xinwen/ 2019-07/15/content_5409694.htm.
[11] 国家卫生健康委.国家卫生健康委关于印发健康儿童行动提 升计划（2021—2025年）的通知:国卫妇幼发〔2021〕33号[EB/OL]. (2021-10-29)[2023-08-16]. http://www.gov.cn/ zhengce/zhengceku/2021-11/05/content_5649019.htm.
[12] Rajput R , Rani M , Rajput M ,et al.Etiological Profile of Short Stature in Children and Adolescents[J].Indian journal of endocrinology and metabolism, 25(3):247-251[2025-09-01].
[13] Kaplan W, Al Amiri E, Attia N, et al. Assessment and referral of patients with short stature by primary care physicians in the Arabian gulf region: current perspectives from a regional survey[J]. Front Pediatr, 2022, 10: 988614.
[14] Al-Abdulrazzaq D, Al-Taiar A, Hassan K, et al. Referral pattern of children with short stature to a pediatric endocrine clinic in Kuwait[J]. J Pediatr Endocrinol Metab, 2016, 29(9): 1055-1061.
[15] Maghnie M, Labarta JI, Koledova E, et al. Short stature diagnosis and referral[J]. Front Endocrinol (Lausanne), 2018, 8: 374.
[16] 王琳.高度重视儿童矮身材的科学评估[J].中国当代儿科杂志, 2023, 25(11):1095-1100.
[17] Asgari S, Luo Y, Akbari A, Belbin GM, Li X, Harris DN, Selig M, Bartell E, Calderon R, Slowikowski K, Contreras C, Yataco R, Galea JT, Jimenez J, Coit JM, Farroñay C, Nazarian RM, O'Connor TD, Dietz HC, Hirschhorn JN, Guio H, Lecca L, Kenny EE, Freeman EE, Murray MB, Raychaudhuri S. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature. 2020 Jun;582(7811):234-239.
[18] Sun P, He L, Jia K, et al. Regulation of body length and bone mass by Gpr126/Adgrg6. Sci Adv. 2020 Mar 20;6(12):eaaz0368.
[19] Jameson JL.哈里森内分泌学[M].胡仁明 等，译.北京：人民卫生出版社,2010.
[20] 中华医学会儿科学分会内分泌遗传代谢学组,王慕逖.矮身材儿童诊治指南.中华儿科杂志. 2008,46(6):428-430.
[21] Sun P, He L, Jia K, Yue Z, Li S, Jin Y, Li Z, Siwko S, Xue F, Su J, Liu M, Luo J. Regulation of body length and bone mass by Gpr126/Adgrg6. Sci Adv. 2020 Mar 20;6(12):eaaz0368.
[22] 王巧红.儿童矮小症病因及临床诊治研究分析[J].中国医药指南,2023,21(26):49-52.
[23] Karachaliou F, Maltezou J, Bekiou V, Tsintzou E, Simatou A. The Effect of Childhood Obesity on Growth: Interpretation of Growth Hormone Provocation Tests. Horm Res Paediatr. 2025 Jul 18:1-9.
[24] Guillaume, A., Benoit, O., Gourmelen, M., & Richardet, J. M. (1982). Relationship between sleep stage IV deficit and reversible HGH deficiency in psychosocial dwarfism.Pediatric Research, 16(4), 299-303.
[25] Greulich WW, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist[M]. 2nd ed. Stanford: Stanford University Press, 1959.
[26] Tanner JM, Whitehouse RH, Cameron N, et al. Assessment of Skeletal Maturity and Prediction of Adult Height (TW3 Method)[M]. 3rd ed. London: WB Saunders, 2001.
[27] 张绍岩,张继业,刘丽娟,等.中国人手腕骨发育标准-中华05[M].北京:科学出版社,2006.
[28] 陈适,朱惠娟.超声评估骨龄研究现状及临床应用前景[J].协和医学杂志，2025, 16 (2): 245-250.
[29] Lee J, et al. Whole exome sequencing to identify genetic causes of short stature[J]. BMC Medical Genetics, 2014, 15(1): 102.
[30] Gürkan S, et al. Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and SNP-array analyses in a Turkish cohort[J]. European Journal of Medical Genetics, 2025, 68(12): 104786.
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