中国当代儿科杂志2025,Vol.27Issue(1) :33-38.DOI:10.7499/j.issn.1008-8830.2409047

努南综合征的生长发育规律与身材矮小的临床治疗进展

Growth and development patterns of Noonan syndrome and advances in the treatment of short stature

李辛 温湉 冯碧云 王秀敏
中国当代儿科杂志2025,Vol.27Issue(1) :33-38.DOI:10.7499/j.issn.1008-8830.2409047

努南综合征的生长发育规律与身材矮小的临床治疗进展

Growth and development patterns of Noonan syndrome and advances in the treatment of short stature

李辛 1温湉 1冯碧云 1王秀敏1
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作者信息

  • 1. 上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科,上海 200127
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摘要

努南综合征(Noonan syndrome,NS)患者出生时身长和体重正常或略低于正常,出生后身高逐渐落后于正常人群,出现生长发育迟缓、青春期发育延迟等临床特征.我国NS患者身材矮小的发生率约为65%.NS患者身材矮小涉及多种病因,与婴幼儿喂养困难、合并先天性心脏病、遗传异质性、生长激素/胰岛素样生长因子-1轴紊乱等有关,常使用生长激素改善矮小症状.该文通过总结NS各阶段生长发育规律,分析身材矮小病因,以及临床治疗的最新进展,为诊断和治疗NS身材矮小提供新思路.

Abstract

Patients with Noonan syndrome(NS)are born with normal or slightly lower body length and weight compared to the normal ranges.However,their height gradually falls behind that of the general population,leading to growth retardation and delayed puberty.In China,the incidence of short stature in patients with NS is approximately 65%.Short stature in these patients arises from multiple causes,including feeding difficulties in infancy,comorbidities such as congenital heart disease,genetic heterogeneity,and disorders of the growth hormone/insulin-like growth factor-1 axis.Growth hormone is commonly used to alleviate symptoms of short stature.This article reviews the growth and development patterns at different stages of NS,analyzes the causes of short stature,and summarizes the latest advances in treatment to provide new insights for the diagnosis and management of short stature in patients with NS.

关键词

努南综合征/生长发育/身材矮小/生长激素

Key words

Noonan syndrome/Growth and development/Short stature/Growth hormone

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出版年

2025
中国当代儿科杂志
中南大学

中国当代儿科杂志

CSCD北大核心
影响因子:1.637
ISSN:1008-8830
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