孤独症谱系障碍中性别差异的研究进展

doi:10.7499/j.issn.1008-8830.2411142

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摘要孤独症谱系障碍（autism spectrum disorder, ASD）是一种以社交障碍、刻板行为和兴趣狭隘为主要特征的神经系统发育障碍性疾病。研究表明，男性发病率显著高于女性。尽管早在20世纪该问题已引起学界关注，但导致ASD性别差异的具体机制至今尚未明确。该文从女性保护效应、DNA甲基化、激素水平及临床表现等方面对ASD性别差异的影响进行综述，并探讨相应的治疗方案，特别是在最易被忽视的诊断环节上提出改进措施，以期为ASD的临床诊疗提供参考依据。

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	姜桐桐
	李秀琼
	赵婷婷
	李宏玉
	唐强

关键词 ：孤独症谱系障碍, 性别差异, 女性保护效应, 遗传学, 激素水平, 表观遗传学, DNA甲基化

Abstract：Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, repetitive behaviors, and restricted interests. Studies have shown that it is more prevalent in males than females. Although this issue has attracted academic attention since the 20th century, the specific mechanisms underlying the gender differences in ASD remain unclear. This paper reviews the impact of gender differences in ASD, focusing on the female protective effect, DNA methylation, hormone levels, and clinical manifestations. It also discusses corresponding treatment options, particularly suggesting improvements in the diagnostic process, which is often overlooked, in order to provide valuable references for the clinical diagnosis and treatment of ASD.

Key words： Autism spectrum disorder Gender difference Female protective effect Genetics Hormone level Epigenetics DNA methylation

收稿日期: 2024-11-26

基金资助:黑龙江省自然科学基金重点项目（LH2020H079）。

通讯作者: 唐强，男，教授。Email：tangqiang1963@163.com。 E-mail: tangqiang1963@163.com

作者简介: 姜桐桐，女，硕士研究生；

引用本文:

姜桐桐,李秀琼,赵婷婷等. 孤独症谱系障碍中性别差异的研究进展[J]. 中国当代儿科杂志, 2025, 27(4): 480-486.

JIANG Tong-Tong,LI Xiu-Qiong,ZHAO Ting-Ting et al. Advances in research on gender differences in autism spectrum disorders[J]. CJCP, 2025, 27(4): 480-486.

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http://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2411142 或 http://www.zgddek.com/CN/Y2025/V27/I4/480

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