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

Xin Li, Tian Wen, Bi-Yun Feng, Xiu-Min Wang
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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.

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[努南综合征的生长发育模式和矮小身材治疗的进展]。
努南综合征(NS)患者出生时体长和体重与正常范围相比正常或略低。然而,他们的身高逐渐落后于一般人群,导致生长迟缓和青春期延迟。在中国,NS患者身材矮小的发生率约为65%。这些患者的身材矮小是由多种原因引起的,包括婴儿期喂养困难、先天性心脏病等合并症、遗传异质性和生长激素/胰岛素样生长因子-1轴紊乱。生长激素通常用于缓解身材矮小的症状。本文综述了NS不同阶段的生长发育模式,分析了NS患者身材矮小的原因,总结了NS患者身材矮小的最新治疗进展,以期为NS患者的诊断和治疗提供新的见解。
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来源期刊
中国当代儿科杂志
中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.50
自引率
0.00%
发文量
5006
期刊介绍: The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R;ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.
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