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努南综合征的生长发育规律与身材矮小的临床治疗进展

李辛 温湉 冯碧云 王秀敏

中国当代儿科杂志2025,Vol.27Issue(1):33-38,6.
中国当代儿科杂志2025,Vol.27Issue(1):33-38,6.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

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

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

引用本文复制引用

李辛,温湉,冯碧云,王秀敏..努南综合征的生长发育规律与身材矮小的临床治疗进展[J].中国当代儿科杂志,2025,27(1):33-38,6.

基金项目

RAS通路病临床研究中心(上海交通大学医学院-儿科学院ELYZX202107) (上海交通大学医学院-儿科学院ELYZX202107)

中央高校基本科研业务费专项资金资助(YG2023QNA35). (YG2023QNA35)

中国当代儿科杂志

OA北大核心

1008-8830

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