Galton Laboratory, Department of Genetics, Evolution and Environment, University College London, United Kingdom of Great Britain and Northern Ireland; Department of Paediatrics, Medical School, Mater Dei Hospital, Malta.
Early Hum Dev. 2020 Jan;140:104863. doi: 10.1016/j.earlhumdev.2019.104863. Epub 2019 Sep 4.
Several potential explanations may be dependent on the dynamics of prenatal and postnatal testosterone in males and females, and to be consistent with Baron-Cohen's concept of extreme male brain. This paper explores the evidence that male and female autistic subjects differ on the average in that they have had different exposures to the causes of autism, females bearing higher genetic burdens for ASD (autistic spectrum disorder), and males having a greater exposure to high intrauterine levels of testosterone (T). The high levels of intrauterine (and possibly postnatal) testosterone to which ASD cases have been exposed, cause a less masculinized physical habitus (including facial features) in exposed males, and a more masculinized physical habitus in exposed females. ASD genes (as opposed to intrauterine testosterone) are mainly responsible for a low mean IQ in ASD (especially female cases). Exposure to high intrauterine T increases the probability that foetuses will be male, thus potentially explaining the high sex ratio (proportion male) of cases of ASD. The Gender Incoherence Model seems to be based on facts unrelated directly to autism. The shifts towards the other sex are argued to be consequent on sex-different reactions to prenatal exposure to high T, not on the pathology itself. The suspected underdiagnosis of female cases is partially dependent on the different proportions of environmental and genetic causes to which male and female cases are hypothesized to have been exposed, and the consequent 'more normal' behaviour of female cases.
可能有几个解释取决于男性和女性产前和产后睾酮的动态，并且与 Baron-Cohen 的极端男性大脑概念一致。本文探讨了这样一种证据，即男性和女性自闭症患者在平均水平上存在差异，因为他们接触自闭症病因的情况不同，女性患有 ASD（自闭症谱系障碍）的遗传负担更高，而男性在子宫内接触高水平的睾酮 (T) 的情况更多。自闭症患者接触到的高宫内（和可能的产后）睾酮水平，导致暴露的男性具有较少男性化的身体形态（包括面部特征），而暴露的女性具有更男性化的身体形态。自闭症基因（与宫内睾酮相反）主要导致自闭症患者的平均智商较低（尤其是女性病例）。暴露于高宫内 T 会增加胎儿为男性的可能性，从而可能解释自闭症病例的高性别比例（男性比例）。性别不一致模型似乎基于与自闭症直接无关的事实。据认为，向另一性别转变是由于对产前高 T 暴露的不同性别反应所致，而不是由于病理学本身所致。对女性病例的疑似漏诊部分取决于男性和女性病例假设接触的环境和遗传原因的不同比例，以及女性病例的“更正常”行为。
