Neuroscience Interdepartmental Program, Brain Research Institute, Los Angeles, California, USA.
Curr Opin Neurol. 2013 Apr;26(2):146-53. doi: 10.1097/WCO.0b013e32835ee548.
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. This review explores the current status of epidemiological, genetic, and neuroendocrinological work addressing ASD prevalence and liability in males and females, so as to frame the major issues necessary to pursue a more complete understanding of the biological basis for sex-differential risk.
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.
自闭症谱系障碍（ASD）患病率存在明显的男性偏倚，这一现象具有显著一致性，但目前尚无明确的机制可以解释这种性别差异。本综述探讨了目前关于男性和女性 ASD 患病率和易感性的流行病学、遗传学和神经内分泌学研究的现状，以便提出解决性别差异风险的生物学基础的主要问题，从而获得更全面的认识。
最近的研究继续报告 ASD 患病率存在男性偏倚，但也表明表型表现存在性别差异，包括女性的受限和重复行为较少，以及外部行为问题较少。遗传研究表明，女性受到遗传和新生 ASD 风险变异的影响较小，有说服力的研究表明，性染色体基因和/或性激素，特别是睾酮，可能调节遗传变异对自闭症表型表现的影响。
ASD 对女性的影响不如男性常见，一些性别差异的遗传和激素因素可能会起到一定作用。未来的研究工作需要确定这些因素如何对男性和女性产生风险和保护作用的机制，这是至关重要的。
