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人类性别认同的遗传学和激素基础。

The genetics and hormonal basis of human gender identity.

作者信息

Batista Rafael Loch, Oliveira Luciana Mattos Barros

机构信息

Universidade de São Paulo Faculdade de Medicina Departamento de Clínica Médica São PauloSP Brasil Unidade de Endocrinologia do Desenvolvimento, Laboratório de Genética Hormonal e Molecular (LIM/42), Divisão de Endocrinologia, Departamento de Clínica Médica, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

Universidade de São Paulo Instituto do Câncer do Estado de São Paulo São PauloSP Brasil Unidade de Endocrinologia, Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, SP, Brasil.

出版信息

Arch Endocrinol Metab. 2024 Nov 6;68(Spec Issue):e240232. doi: 10.20945/2359-4292-2024-0232. eCollection 2024.

DOI:10.20945/2359-4292-2024-0232
PMID:39876962
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11771763/
Abstract

Gender identity refers to one's psychological sense of their own gender. Establishing gender identity is a complex phenomenon, and the diversity of gender expression challenges simplistic or unified explanations. For this reason, the extent to which it is determined by nature (biological) or nurture (social) is still debatable. The biological basis of gender identity cannot be modeled in animals and is best studied in people who identify with a gender that is different from the sex of their genitals such as transgender people and people with disorders/differences of sex development. Numerous research studies have delved into unraveling the intricate interplay of hormonal, neuroanatomic/neurofunctional, and genetic factors in the complex development of core gender identity. In this review, we explore and consolidate existing research that provides insights into the biological foundations of gender identity, enhancing our understanding of this intriguing human psychological trait.

摘要

性别认同是指一个人对自己性别的心理认知。确立性别认同是一个复杂的现象,性别表达的多样性对简单化或统一的解释构成了挑战。因此,它在多大程度上由天性(生物学因素)或养育(社会因素)决定仍存在争议。性别认同的生物学基础无法在动物身上建模,最好在那些认同与自己生殖器性别不同的性别的人身上进行研究,比如跨性别者以及性发育障碍/差异者。众多研究致力于揭示激素、神经解剖学/神经功能以及基因因素在核心性别认同复杂发展过程中的错综复杂的相互作用。在这篇综述中,我们探索并整合了现有的研究,这些研究为性别认同的生物学基础提供了见解,增进了我们对这一引人入胜的人类心理特征的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc84/11771763/35b2bef4446f/2359-4292-aem-68-spe-e240232-gf02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc84/11771763/33f81b205d34/2359-4292-aem-68-spe-e240232-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc84/11771763/35b2bef4446f/2359-4292-aem-68-spe-e240232-gf02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc84/11771763/33f81b205d34/2359-4292-aem-68-spe-e240232-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc84/11771763/35b2bef4446f/2359-4292-aem-68-spe-e240232-gf02.jpg

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本文引用的文献

1
DNA methylation and demethylation shape sexual differentiation of neurochemical phenotype.DNA 甲基化和去甲基化塑造神经化学表型的性别分化。
Horm Behav. 2023 May;151:105349. doi: 10.1016/j.yhbeh.2023.105349. Epub 2023 Mar 30.
2
Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development.性取向和生育意愿在一大群 46,XY 性发育差异个体中的表现。
Clinics (Sao Paulo). 2023 Mar 23;78:100185. doi: 10.1016/j.clinsp.2023.100185. eCollection 2023.
3
Congenital adrenal hyperplasia.先天性肾上腺皮质增生症。
Lancet. 2023 Jan 21;401(10372):227-244. doi: 10.1016/S0140-6736(22)01330-7. Epub 2022 Dec 8.
4
Gender dysphoria in twins: a register-based population study.双胞胎中的性别焦虑:基于登记的人群研究。
Sci Rep. 2022 Aug 4;12(1):13439. doi: 10.1038/s41598-022-17749-0.
5
The Molecular Basis of 5α-Reductase Type 2 Deficiency.5α-还原酶 2 型缺乏症的分子基础。
Sex Dev. 2022;16(2-3):171-183. doi: 10.1159/000525119. Epub 2022 Jul 6.
6
Brain Sex in Transgender Women Is Shifted towards Gender Identity.跨性别女性的大脑性别特征向其性别认同转变。
J Clin Med. 2022 Mar 13;11(6):1582. doi: 10.3390/jcm11061582.
7
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.临床和遗传学方法对诊断209例46,XY性发育差异索引病例的贡献。
J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. doi: 10.1210/clinem/dgac064.
8
Epigenetics Is Implicated in the Basis of Gender Incongruence: An Epigenome-Wide Association Analysis.表观遗传学与性别不一致的基础有关:一项全表观基因组关联分析。
Front Neurosci. 2021 Aug 19;15:701017. doi: 10.3389/fnins.2021.701017. eCollection 2021.
9
46,XX DSD: Developmental, Clinical and Genetic Aspects.46,XX性发育异常:发育、临床及遗传学方面
Diagnostics (Basel). 2021 Jul 30;11(8):1379. doi: 10.3390/diagnostics11081379.
10
Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia.经典型先天性肾上腺皮质增生症女孩的性别角色行为和性别认同。
BMC Pediatr. 2021 Jun 5;21(1):262. doi: 10.1186/s12887-021-02742-9.