Sex characteristics exhibit significant disparities in various human diseases, including prevalent cardiovascular diseases, cancers, metabolic disorders, autoimmune diseases, and neurodegenerative diseases. Risk profiles and pathological manifestations of these diseases exhibit notable variations between sexes. The underlying reasons for these sex disparities encompass multifactorial elements, such as physiology, genetics, and environment. Recent studies have shown that human body systems demonstrate sex-specific gene expression during critical developmental stages and gene editing processes. These genes, differentially expressed based on different sex, may be regulated by androgen or estrogen-responsive elements, thereby influencing the incidence and presentation of cardiovascular, oncological, metabolic, immune, and neurological diseases across sexes. However, despite the existence of sex differences in patients with human diseases, treatment guidelines predominantly rely on male data due to the underrepresentation of women in clinical trials. At present, there exists a substantial knowledge gap concerning sex-specific mechanisms and clinical treatments for diverse diseases. Therefore, this review aims to elucidate the advances of sex differences on human diseases by examining epidemiological factors, pathogenesis, and innovative progress of clinical treatments in accordance with the distinctive risk characteristics of each disease and provide a new theoretical and practical basis for further optimizing individualized treatment and improving patient prognosis.

性别特征在各种人类疾病中表现出显着差异，包括流行的心血管疾病、癌症、代谢紊乱、自身免疫性疾病和神经退行性疾病。这些疾病的风险状况和病理表现在性别之间表现出显着差异。这些性别差异的根本原因包括生理、遗传和环境等多因素。最近的研究表明，人体系统在关键发育阶段和基因编辑过程中表现出性别特异性基因表达。这些基因根据不同性别差异表达，可能受到雄激素或雌激素反应元件的调节，从而影响不同性别心血管、肿瘤、代谢、免疫和神经系统疾病的发病率和表现。然而，尽管人类疾病患者存在性别差异，但由于临床试验中女性代表性不足，治疗指南主要依赖于男性数据。目前，关于不同疾病的性别特异性机制和临床治疗存在巨大的知识差距。因此，本文旨在针对每种疾病独特的风险特征，通过考察流行病学因素、发病机制以及临床治疗的创新进展，阐明性别差异对人类疾病的研究进展，为进一步优化个体化治疗提供新的理论和实践依据。治疗并改善患者预后。