Sex differences in autism spectrum disorders.
Sex differences in autism spectrum disorders.
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DOI：
10.1097/wco.0b013e32835ee548
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发表时间：
2013-04
影响因子：
4.8
通讯作者：
Geschwind DH
中科院分区：
文献类型：
--
作者：
Werling DM;Geschwind DH
自闭症谱系障碍（ASD）患病率中存在强烈的男性偏见，这一点具有惊人的一致性，但还没有任何机制可以明确解释这种性别差异。为了更全面地了解性别差异风险的生物学基础，本文综述了流行病学、遗传学和神经内分泌学工作的现状，这些工作涉及男性和女性的ASD患病率和责任。最近的研究继续报告ASD患病率的男性偏见，但也表明表型表现的性别差异，包括女性较少的限制和重复行为以及外部行为问题，可能导致这种偏见。遗传研究表明，女性受到保护，免受遗传性和新生ASD风险变异的影响，令人信服的工作表明，性染色体基因和/或性激素，特别是睾酮，可能会调节遗传变异对自闭症表型的影响。ASD影响女性的频率低于男性，一些性别差异遗传和激素因素可能起作用。今后必须开展工作，确定这些因素给男性和女性带来风险和保护的机制。
A strong male bias in autism spectrum disorder (ASD) prevalence has been observed with striking consistency, but no mechanism has yet to definitively account for this sex difference. Toward the pursuit of a more complete understanding of the biological basis for sex-differential risk, this review explores the current status of epidemiological, genetic, and neuroendocrinological work addressing ASD prevalence and liability in males and females. Recent studies continue to report a male bias in ASD prevalence, but also suggest that sex differences in phenotypic presentation, including fewer restricted and repetitive behaviors and externalizing behavioral problems in females, may contribute to this bias. Genetic studies demonstrate that females are protected from the effects of heritable and de novo ASD risk variants, and compelling work suggests that sex chromosomal genes and/or sex hormones, especially testosterone, may modulate the effects of genetic variation on the presentation of an autistic phenotype. ASDs affect females less frequently than males, and several sex-differential genetic and hormonal factors may contribute. Future work to determine the mechanisms by which these factors confer risk and protection to males and females is essential.