GenderDysphoria.fyi/public/tw/chromosomes.md

---
date: "2020-01-26T20:41:55.827Z"
lang: "tw"
title: "性發育差異:性別不是染色體"
linkTitle: "染色體"
description: "DNA 更像是指導方針，而不是實際規則。"
preBody: '_disclaimer'
classes:
  - gdb
siblings:
  prev: /tw/causes
  prevCaption: 性別不安的成因
  next: /tw/hormones
  nextCaption: 荷爾蒙如何運作
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  - https://twitter.com/RebeccaRHelm/status/1207834357639139328
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  - https://twitter.com/RebeccaRHelm/status/1207839452619522048
  - https://twitter.com/RebeccaRHelm/status/1207839986801922048
  - https://twitter.com/alicemiriel/status/1208181235593490433
  - https://twitter.com/TransEthics/status/1223942625708761088

---

<!-- # But the Chromosomes!!! -->
# 但是染色體！！！

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<!-- There are dozens of ways that chromosomes can be much more complex than XX and XY. Referred to as DSDs ([differences in sex development](https://en.wikipedia.org/wiki/Disorders_of_sex_development)), not all of them result in an intersex condition, and many only manifest at the onset of puberty. -->
染色體的複雜程度遠遠超過 XX 和 XY，有很多種情況。被稱為 DSD（[性別分化多元性](https://zh.wikipedia.org/wiki/%E6%80%A7%E5%88%A5%E5%88%86%E5%8C%96%E5%A4%9A%E5%85%83%E6%80%A7)），並非所有情況都會導致雙性人狀況，而且許多情況只在青春期開始時才會出現。

<!-- - [De la Chapelle syndrome](https://en.wikipedia.org/wiki/XX_male_syndrome) (46,XX Male) occurs when the SRY gene from the sperm parent crosses over into a non-Y-bearing sperm during spermatogenesis. When the egg and sperm merge, it results in an XX embryo with an SRY gene, creating a phenotypically-male child with two X chromosomes. -->
- [德拉夏佩爾症候群](https://en.wikipedia.org/wiki/XX_male_syndrome)（46,XX 男性）發生在精子母體的 SRY 基因在精子發生過程中交叉到非 Y 染色體的精子中時。當卵子和精子融合時，就會產生一個帶有 SRY 基因的 XX 胚胎，從而產生一個具有兩條 X 染色體的表型男性兒童。

<!-- - [Swyer syndrome](https://en.wikipedia.org/wiki/Swyer_syndrome) (46,XY Female) produces a phenotypically-female child with an XY chromosome. This results from a dozen different genetic conditions, including: -->
- [斯威爾症候群](https://zh.wikipedia.org/wiki/XY%E6%80%A7%E8%85%BA%E7%99%BC%E8%82%B2%E4%B8%8D%E5%85%A8)（英文）（46,XY 女性）會產生一個帶有 XY 染色體的表型女性兒童。這是由十幾種不同的基因狀況引起的，包括：
  <!-- - Absence or defect of an SRY gene
  - Absence or defect of [DHH](https://en.wikipedia.org/wiki/Desert_hedgehog_(protein)) synthesis
  - Absence of the [SF-1](https://en.wikipedia.org/wiki/Steroidogenic_factor_1) protein due to adrenal failure
  - Absence of or defect the [CBX2](https://en.wikipedia.org/wiki/CBX2_(gene)) gene, preventing TDF cascade -->
  
  - 缺乏或缺陷的 SRY 基因
  - 缺乏或缺陷的[DHH](https://en.wikipedia.org/wiki/Desert_hedgehog_(protein))（英文）合成
  - 由於腎上腺衰竭而缺乏[SF-1](https://en.wikipedia.org/wiki/Steroidogenic_factor_1)（英文）蛋白質
  - 缺乏或缺陷的[CBX2](https://en.wikipedia.org/wiki/CBX2_(gene))（英文）基因，阻止 TDF 級聯

<!-- - [XX gonadal dysgenesis](https://en.wikipedia.org/wiki/XX_gonadal_dysgenesis) is very similar to Swyer syndrome, except it occurs in XX children and results in nonfunctional ovaries. -->
- [XX 性腺發育不全](https://en.wikipedia.org/wiki/XX_gonadal_dysgenesis)（英文）與斯威爾症候群非常相似，只是它發生在 XX 兒童身上，導致卵巢無功能。

<!-- - [Turner syndrome](https://en.wikipedia.org/wiki/Turner_syndrome) (45,X) produces a phenotypically-female child with numerous abnormalities. It occurs when neither an X or Y chromosome crosses over from the sperm. -->

- [特納症候群](https://zh.wikipedia.org/wiki/%E7%89%B9%E7%BA%B3%E7%BB%BC%E5%90%88%E5%BE%81)（45,X）會產生一個表型女性的兒童，並伴有許多異常。它發生在 X 或 Y 染色體都沒有從精子交叉過來的時候。

<!-- - [Klinefelter syndrome](https://en.wikipedia.org/wiki/Klinefelter_syndrome) (47,XXY) results in a phenotypically-male child with more feminine traits. In extremely rare cases [it appears in female-assigned children](https://www.ncbi.nlm.nih.gov/pubmed/15755052) as well, resulting in feminized testicles instead of ovaries. -->
- [克林費爾特症候群](https://zh.wikipedia.org/wiki/%E5%85%8B%E8%8E%AB%E8%8F%B2%E7%88%BE%E7%89%B9%E7%97%87%E5%80%99%E7%BE%A4)（47,XXY）會導致一個表型男性的兒童，但具有更多女性化的特徵。在極少數情況下，[它也出現在女性指定的兒童身上](https://www.ncbi.nlm.nih.gov/pubmed/15755052)（英文），導致女性化的睪丸而不是卵巢。

<!-- - [48,XXXY Klinefelter syndrome](https://en.wikipedia.org/wiki/XXXY_syndrome) has similar results to 47,XXY Klinefelter syndrome, but with more intense health issues. -->
- [48,XXXY 克林費爾特症候群](https://en.wikipedia.org/wiki/XXXY_syndrome)（英文）的結果與 47,XXY 克林費爾特症候群相似，但健康問題更嚴重。

<!-- - [49,XXXXY Klinefelter syndrome](https://en.wikipedia.org/wiki/49,XXXXY) is often fatal, but when it isn't, it often results in a sterile child. -->
- [49,XXXXY 克林費爾特症候群](https://en.wikipedia.org/wiki/49,XXXXY)（英文）通常是致命的，但如果不是，它通常會導致不育的兒童。

<!-- - [Trisomy X](https://en.wikipedia.org/wiki/Triple_X_syndrome) (47,XXX), [Tetrasomy X](https://en.wikipedia.org/wiki/Tetrasomy_X) (48,XXXX), and [Pentasomy X](https://en.wikipedia.org/wiki/49,_XXXXX) (49,XXXXX) all result in a female child, but with progressively more intense health issues. -->
- [三 X 症候群](https://zh.wikipedia.org/wiki/%E4%B8%89%E6%9F%93%E8%89%B2%E9%AB%94X%E7%97%87%E5%80%99%E7%BE%A4)（47,XXX）、[四 X 症候群](https://en.wikipedia.org/wiki/Tetrasomy_X)（英文）（48,XXXX）和[五 X 症候群](https://en.wikipedia.org/wiki/49,_XXXXX)（英文）（49,XXXXX）都會導致女性兒童，但健康問題會越來越嚴重。

<!-- - [XXYY Syndrome](https://en.wikipedia.org/wiki/XXYY_syndrome) results in male children (due to two SRY genes) who often experience hypogonadism, needing testosterone supplements, but otherwise seeming like a typical male. -->
- [XXYY 症候群](https://en.wikipedia.org/wiki/XXYY_syndrome)（英文）會導致男性兒童（由於兩個 SRY 基因）經常經歷性腺功能減退，需要補充睪固酮，但在其他方面看起來像典型的男性。

<!-- - [Mosaicism](https://en.wikipedia.org/wiki/Mosaic_(genetics)) results when some cells in the body have one set of chromosomes and other cells have another due to a mutation of the genome during gestation. This may be XX/XY (resulting in a dual set of genitalia), X/XY (a milder form of Swyer or Turner syndromes) or XX/XXY (a milder form of Klinefelter syndrome). -->
- [鑲嵌現象](https://zh.wikipedia.org/wiki/%E9%91%B2%E5%B5%8C%E7%8F%BE%E8%B1%A1)是指由於妊娠期間基因組突變，體內某些細胞具有一組染色體，而其他細胞具有另一組染色體。這可能是 XX/XY（導致兩套生殖器）、X/XY（斯威爾或特納症候群的輕度形式）或 XX/XXY（克林費爾特症候群的輕度形式）。

<!-- - [Chimerism](https://en.wikipedia.org/wiki/Chimera_(genetics)) occurs when two fertilized embryos merge together into one zygote, causing half of the child to contain one set of DNA and the other half to contain another. This can result in an otherwise completely typical human being of either male or female phenotype, even capable of producing offspring, but which comes back on a karyotype test as not matching their phenotype based on where the sample was taken on their body. In extremely rare cases this can result in two full sets of reproductive organs. -->
- [嵌合體](https://zh.wikipedia.org/wiki/%E5%B5%8C%E5%90%88%E9%AB%94)發生在兩個受精胚胎融合成一個合子時，導致孩子的一半包含一組 DNA，另一半包含另一組 DNA。這可能導致一個在其他方面完全典型的男性或女性表型的人，甚至能夠生育後代，但在核型檢測中，根據其身體上的採樣位置，其結果與表型不符。在極少數情況下，這可能導致兩套完整的生殖器官。

<!-- - [Congenital adrenal hyperplasia](https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia) (CAH) is masculinization of the female genitals in an XX child due to overactive adrenal glands. -->
- [先天性腎上腺增生症](https://zh.wikipedia.org/wiki/%E5%85%88%E5%A4%A9%E6%80%A7%E8%85%8E%E4%B8%8A%E8%85%BA%E5%A2%9E%E7%94%9F%E7%97%87)（CAH）是由於腎上腺過度活躍導致 XX 兒童的女性生殖器男性化。

<!-- - [Androgen insensitivity syndrome](https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome) (AIS) is a total or partial resistance to all androgens, preventing masculinization of all organs, save for the testicles, in an XY child. AIS subjects typically develop a female gender identity, but some partial cases may be male. -->
- [雄激素不敏感症候群](https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome)（英文）（AIS）是指對所有雄激素的全部或部分抵抗，阻止 XY 兒童除睪丸外的所有器官男性化。AIS 患者通常會發展出女性的性別認同，但有些部分病例可能是男性。

<!-- - [5-alpha-reductase deficiency](https://en.wikipedia.org/wiki/5-alpha-reductase_deficiency) (5ARD) is a failure in the body's ability to metabolize testosterone into dihydrotestosterone (DHT), preventing masculinization of the genitalia until the onset of puberty, when the child suddenly grows a penis. -->
- [5α-還原酶缺乏症](https://en.wikipedia.org/wiki/5-alpha-reductase_deficiency)（英文）（5ARD）是指身體無法將睪固酮代謝成雙氫睪固酮 (DHT)，從而阻止生殖器男性化，直到青春期開始，孩子的陰莖才會突然長出來。

<!-- - [Aromatase deficiency](https://en.wikipedia.org/wiki/Aromatase_deficiency) causes masculinization of an otherwise female child due to excess levels of testosterone (and can bleed over into the mother during gestation). -->
- [芳香酶缺乏症](https://en.wikipedia.org/wiki/Aromatase_deficiency)（英文）是由於睪固酮水平過高而導致原本是女性的兒童男性化（並且會在妊娠期間影響到母親）。

<!-- - [Aromatase excess](https://en.wikipedia.org/wiki/Aromatase_excess_syndrome) causes feminisation in an otherwise male child, as all testosterone is converted into estrogen. -->
- [芳香酶過多症](https://en.wikipedia.org/wiki/Aromatase_excess_syndrome)（英文）會導致原本是男性的兒童女性化，因為所有的睪固酮都會轉化為雌激素。


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