Department of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria.
Department of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria.
Handb Clin Neurol. 2020;175:179-193. doi: 10.1016/B978-0-444-64123-6.00013-8.
Sex differences are observed at many distinct biologic levels, such as in the anatomy and functioning of the brain, behavior, and susceptibility to neuropsychiatric disorders. Previously, these differences were believed to entirely result from the secretion of gonadal hormones; however, recent research has demonstrated that differences are also the consequence of direct or nonhormonal effects of genes located on the sex chromosomes. This chapter reviews the four core genotype model that separates the effects of hormones and sex chromosomes and highlights a few genes that are believed to be partly responsible for sex dimorphism of the brain, in particular, the Sry gene. Genetics of the brain's neurochemistry is discussed and the susceptibility to certain neurologic and psychiatric disorders is reviewed. Lastly, we discuss the sex-specific genetic contribution in disorders of sexual development. The precise molecular mechanisms underlying these differences are currently not entirely known. An increased knowledge and understanding of the role of candidate genes will undeniably be of great aid in elucidating the molecular basis of sex-biased disorders and potentially allow for more sex-specific therapies.
性别差异在许多不同的生物学层面上都存在，例如大脑的解剖结构和功能、行为以及对神经精神疾病的易感性。以前，这些差异被认为完全是由性腺激素的分泌引起的；然而，最近的研究表明，差异也是位于性染色体上的基因的直接或非激素作用的结果。本章回顾了将激素和性染色体的作用分开的四个核心基因型模型，并强调了一些被认为部分导致大脑性别二态性的基因，特别是 Sry 基因。讨论了大脑神经化学的遗传学，并回顾了某些神经和精神疾病的易感性。最后，我们讨论了性发育障碍中的性别特异性遗传贡献。这些差异的确切分子机制目前尚不完全清楚。增加对候选基因作用的认识和理解无疑将极大地有助于阐明性别偏倚性疾病的分子基础，并可能允许更具性别特异性的治疗方法。
