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身材高大:一个难以诊断的问题?

Tall stature: a difficult diagnosis?

机构信息

Department of Internal Medicine and Therapeutics, Unit of Pediatrics and Adolescentology, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale C. Golgi 19, 27100, Pavia, Italy.

University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

出版信息

Ital J Pediatr. 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5.

DOI:10.1186/s13052-017-0385-5
PMID:28774346
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5543750/
Abstract

Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tall stature show a familial tall stature or a constitutional advance of growth (CAG), which is a diagnosis of exclusion. After a careful physical evaluation, tall subjects may be divided into two groups: tall subjects with normal appearance and tall subjects with abnormal appearance. In the case of normal appearance, the paediatric endocrinologist will have to evaluate the growth rate. If it is normal for age and sex, the subject may be classified as having familial tall stature, CAG or obese subject, while if the growth rate is increased it is essential to evaluate pubertal status and thyroid status. Tall subjects with abnormal appearance and dysmorphisms can be classified into those with proportionate and disproportionate syndromes.A careful physical examination and an evaluation of growth pattern are required before starting further investigations. Physicians should always search for a pathological cause of tall stature, although the majority of children are healthy and they generally do not need treatment to cease growth progression.The most accepted and effective treatment for an excessive height prediction is inducing puberty early and leading to a complete fusion of the epiphyses and achievement of final height, using testosterone in males and oestrogens in females. Alternatively, the most common surgical procedure for reducing growth is bilateral percutaneous epiphysiodesis of the distal femur and proximal tibia and fibula.This review aims to provide up-to-date information and suggestions about the diagnosis and management of children with tall stature.

摘要

转诊评估身材高大的情况比评估身材矮小的情况少见。身材高大定义为身高高于年龄平均值两个标准差以上。大多数身材高大的患者表现为家族性身材高大或生长提前(CAG),这是一种排除性诊断。经过仔细的身体评估,高个子患者可分为两组:外观正常的高个子患者和外观异常的高个子患者。在外观正常的情况下,儿科内分泌学家将不得不评估生长速度。如果其与年龄和性别相匹配,则可将患者归类为家族性身材高大、CAG 或肥胖患者,而如果生长速度增加,则必须评估青春期状态和甲状腺状态。外观异常和畸形的高个子患者可分为比例和不成比例的综合征。在开始进一步调查之前,需要进行仔细的体格检查和生长模式评估。尽管大多数儿童身体健康,通常不需要治疗来停止生长进展,但医生应始终寻找身材高大的病理性原因。对于过度身高预测,最被接受和有效的治疗方法是通过在男性中使用睾酮和在女性中使用雌激素来提前诱导青春期,从而导致骨骺完全融合并达到最终身高。或者,减少生长的最常见手术是双侧经皮股骨远端和胫骨近端及腓骨骺板融合术。本文旨在提供关于儿童身材高大的诊断和管理的最新信息和建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b382/5543750/e2217724837d/13052_2017_385_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b382/5543750/aa3e0b1a5151/13052_2017_385_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b382/5543750/e2217724837d/13052_2017_385_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b382/5543750/aa3e0b1a5151/13052_2017_385_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b382/5543750/e2217724837d/13052_2017_385_Fig2_HTML.jpg

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本文引用的文献

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Analysis of growth hormone receptor gene expression in tall and short stature children.身材高大和矮小儿童生长激素受体基因表达分析
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Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases.马凡综合征的骨科问题:一家罕见病诊断转诊中心的经验
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Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.
儿童期与身材高大相关疾病的流行病学:一项为期20年的出生队列研究。
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The Treatment of Growth Disorders in Childhood and Adolescence.儿童及青少年生长障碍的治疗
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Tall stature and gigantism in transition age: clinical and genetic aspects-a literature review and recommendations.青春期身材高大和巨人症:临床和遗传方面——文献综述及建议。
J Endocrinol Invest. 2024 Apr;47(4):777-793. doi: 10.1007/s40618-023-02223-z. Epub 2023 Oct 27.
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Preliminary results of two novel devices for epiphysiodesis in the reduction of excessive predicted final height in tall stature.两种新型骺板阻滞器在减少过高身材最终身高过度增长中的初步结果。
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Cureus. 2020 May 7;12(5):e8000. doi: 10.7759/cureus.8000.
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Tall Stature: A Challenge for Clinicians.高身材:临床医生面临的一项挑战。
Curr Pediatr Rev. 2019;15(1):10-21. doi: 10.2174/1573396314666181105092917.
FMR1相关疾病诊断与筛查中的分子关联及最新进展
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Evaluation and phenotypic characteristics of 293 Danish girls with tall stature: effects of oral administration of natural 17β-estradiol.293名丹麦高身材女孩的评估及表型特征:口服天然17β-雌二醇的影响
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