一些性方面先天syndrome的东西:
Swyer syndrome
Probably the most compelling evidence that human neurological sexual differentiation is gonad dependent and independent of gene expression is provided by 46,XY persons with pure gonadal dysgenesis, or Swyer syndrome (Wisniewski et al., 2008). These individuals are externally female with streak gonads and, if untreated with estrogens, do not experience puberty. All reported cases identify as heterosexual females and experience no gender dysphoria. Since there is no MIH, the Müllerian duct structures develop into a rudimentary uterus and vagina so that 46,XY Swyer Syndrome women can maintain a pregnancy if treated hormonally.
Swyer综合征(注:46, XY 发育为女性表型,常与SRY基因有关)
46,XY患有单纯性腺发育不全或Swyer综合征的人可能提供了人类神经性别分化依赖于性腺且独立于基因表达的最令人信服的证据(Wisniewski等人,2008)。这些人外体为女性,有条纹性腺,如果不用雌激素治疗,则不会经历青春期。所有报告的病例均被确定为异性恋女性,没有性别焦虑。由于没有 MIH(苗勒管抑制激素),苗勒管结构发育成基本的子宫和阴道,因此如果接受激素治疗,46,XY Swyer 综合征女性可以妊娠。
Androgen insensitivity
In CAIS, a 46,XY person is unable to respond to androgens although MIH prevents development of the Müllerian ducts. Such individuals are infertile. Persons with CAIS identify as heterosexual females and do not experience gender dysphoria. CAIS provides evidence that, in humans, MIH does not play a central role in sexual differentiation.
雄激素不敏感
在 CAIS(注:完全雄激素不敏感综合征,会使得 46, XY 发育为拥有睾丸但是是女性表型) 中,尽管 MIH 阻止了苗勒管发育(为子宫和阴道),但雄激素对这些 46,XY 的人完全无效。这样的人是不育的。CAIS患者认同是异性恋女性,不会出现性别焦虑症。CAIS提供的证据表明,在人类中,MIH在性别分化中不起核心作用。
From a societal acceptance perspective, 46,XY women with Swyer syndrome or CAIS conform to the binary stereotype, i.e., male vs. female. In contrast, with 46,XY PAIS, the degree of anatomical and neurological differentiation depends on the extent of retained androgen sensitivity. Although attempts are made to raise persons as male or female, gender dysphoria is not uncommon (Wisniewski et al., 2008) and it is arguable that either category is appropriate.
从社会接受度的角度来看,患有Swyer综合征或CAIS的46,XY女性符合二元性别刻板印象,即性别要么是男性要么女性。相比之下,对于 46,XY PAIS(部分性雄激素不敏感综合征),解剖学和神经学分化的程度取决于对雄激素敏感性的程度。虽然多种尝试试图将这些人按男性或女性养大,但性别焦虑并不少见(Wisniewski et al., 2008),并且是否要将其划为男女二者中的一类存在争议。
46,XY congenital estrogen deficiency
There are very few reported cases of 46,XY estrogen deficiency caused by either estrogen insensitivity or aromatase deficiency (Rochira et al., 2001). Although there are some reproductive anomalies, all individuals identify as heterosexual males (Rochira et al., 2001). Although the numbers are limited, this evidence is persuasive that estrogen plays little role in human male-typical sexual differentiation.
46,XY先天性雌激素缺乏症
由雌激素不敏感或芳香酶缺乏引起的46,XY雌激素缺乏症的报道很少(Rochira等人,2001)。尽管存在一些生殖异常,但所有个体都认为自己是异性恋男性(Rochira等人,2001)。尽管数量有限,但这一证据令人信服,雌激素在人类男性典型性别分化中几乎没有作用。
Transsexual
If there is masculinization/defeminization of the genitalia, but not the brain, it would be hypothesized that a 46,XY transgendered person develops. Studies by Savic and Arver (2011) support this hypothesis, but the number of individuals studied is very small. In some societies, most notably Independent Samoa, 46,XY transgendered persons indentify as a third gender, fa’fafine, which is feminine and there is no societal stigmatization associated with this gender. Fa’fafine are indentified at a very early age and seminal studies by Vasey et al. (2011) suggest that their psychosocial development is similar to girls, supporting the hypothesis that their brains have not undergone masculinization/defeminization. It is of note that fraternal birth order has been associated with the probability of a fa’fafine being born (VanderLaan and Vasey, 2011).
跨性别者
如果生殖器有男性化/去女性化,但大脑没有,就会发育成一个 46,XY 的跨性别者。Savic 和 Arver (2011) 的研究支持这一假设,但研究的个体数量非常少。在一些社会中,尤其是Independent Samoa,46,XY的跨性别者被认定为第三性别,即 fa’fafine,被算作是女性,并且没有与这种性别相关的社会污名化。Fa’fafine在很小的时候就被识别出来,Vasey等人(2011)的开创性研究表明,她们的心理社会发育与女孩相似,支持了她们的大脑没有经历过男性化/去化化的假设。值得注意的是,兄弟出生顺序与fa’fafine出生的概率有关(VanderLaan和Vasey,2011)。
Diethylstilbestrol and other xeno- and phyto-steroids
Diethylstilbestrol, a synthetic estrogen, was first synthesized in 1938 but, like several other xeno- and phyto-estrogens, it has affinity for the androgen receptor (Wang et al., 2010). Between 1940 and 1970, DES was used as a gestation facilitator and approximately 2 million US babies were exposed in utero although the duration and dose of DES were variable. Interestingly, there is a higher incidence of homosexuality in women exposed to DES as fetuses (Ehrhardt et al., 1985). Anecdotal evidence (Swaab, 2007) also suggested a higher incidence of DES exposure in 46,XY transgendered persons. There are numerous reports of an association between xeno- and phyto-estrogens and impaired sexual differentiation although most have focused on the effects on sexual anatomy and, by inference, the brain. For example, exposure to high levels of genistein or fungicides, which may act as xenosteroids, are associated with a higher incidence of hypospadias in men. Methoxyacetic acid, the primary active metabolite of the industrial chemical ethylene glycol monomethyl ether, disrupts spermatogenesis, and causes testicular atrophy was shown to affect androgen sensitive HOX genes (Bagchi et al., 2011).
己烯雌酚 (DES) 是一种合成雌激素,于 1938 年首次合成,但与其他几种变种和植物雌激素一样,它对雄激素受体具有亲和力(Wang 等人,2010 年)。1940 年至 1970 年间,DES 被用作妊娠促进剂,大约 200 万美国婴儿在子宫内 暴露,尽管 DES 的持续时间和剂量各不相同。有趣的是,在胎儿时期暴露于DES的妇女中,同性恋的发生率更高(Ehrhardt等人,1985)。轶事证据(Swaab,2007 年)还表明,在 46,XY 跨性别者中,DES 暴露的发生率更高。有许多关于异种雌激素和植物雌激素与性别分化受损之间关联的报道,尽管大多数报告都集中在对性解剖学的影响上,并通过推断对大脑的影响。例如,暴露于高水平的染料木黄酮或杀菌剂(可能充当异种类固醇)与男性尿道下裂的发病率较高有关。甲氧基乙酸是工业化学品乙二醇单甲醚的主要活性代谢产物,破坏精子发生,并导致睾丸萎缩,被证明会影响雄激素敏感的HOX基因(Bagchi等人,2011)。