多囊卵巢综合征跨代遗传的临床与基础研究进展

doi:10.12280/gjszjk.20250517

摘要/Abstract

摘要：

多囊卵巢综合征（polycystic ovary syndrome，PCOS）是育龄期女性常见的生殖内分泌代谢性疾病，临床表现以排卵障碍、雄激素过多、卵巢多囊样改变和血清抗米勒管激素（anti-Müllerian hormone，AMH）水平升高为主要特征，其发病呈较明显的家族聚集性和遗传易感性。PCOS的发病机制复杂多样，目前认为PCOS的发生主要由遗传与环境因素共同作用导致。最新的动物实验证实，产前暴露于高雄激素或AMH下的动物可诱发PCOS样表型，并且其子二代也可出现PCOS相关的生殖内分泌代谢表型，证实了PCOS的跨代遗传效应。与此同时，通过控制饮食或靶向AMH信号通路能够有效减少PCOS的跨代遗传。这些发现为阐明PCOS发病机制提供了新思路，也为治疗提供了新靶点。系统综述PCOS跨代遗传、遗传模式、表观调控机制及临床证据，以及当前研究的局限性。

关键词: 多囊卵巢综合征, 遗传, 后成说，遗传, 雄激素类, 跨代遗传

Abstract:

Polycystic ovary syndrome (PCOS), a prevalent reproductive endocrine and metabolic disorder among women of reproductive age, is characterized by ovulatory dysfunction, androgen excess, polycystic ovarian morphology, and the elevated level of serum anti-Müllerian hormone (AMH). PCOS exhibits a notable familial aggregation and genetic predisposition. The pathogenesis of PCOS is complex and multifactorial, which is currently believed to result from the combined effects of genetic and environmental factors. Recent animal experiments have demonstrated that the prenatal exposure to elevated androgen or AMH can induce a PCOS-like phenotype. Furthermore, the second filial offspring of exposed animals also display the reproductive endocrine and metabolic phenotypes associated with PCOS, confirming the transgenerational inheritance effect of PCOS. Concurrently, dietary modification or targeting the AMH signaling pathway has been shown to effectively mitigate this transgenerational inheritance of PCOS. These findings provide new insights for elucidating the pathogenesis of PCOS and reveal potential novel therapeutic targets. In this paper, we systematically review the research progress on the transgenerational inheritance of PCOS, genetic patterns, epigenetic regulatory mechanisms, and clinical evidence. Furthermore, we analyze the limitations of current research in this field.

Key words: Polycystic ovary syndrome, Heredity, Epigenesis, genetic, Androgens, Transgenerational inheritance

陈雯昕, 俞池园, 许波群. 多囊卵巢综合征跨代遗传的临床与基础研究进展[J]. 国际生殖健康/计划生育杂志, 2026, 45(1): 60-66.

CHEN Wen-xin, YU Chi-yuan, XU Bo-qun. Advances in Clinical and Basic Research on the Transgenerational Inheritance of Polycystic Ovary Syndrome[J]. Journal of International Reproductive Health/Family Planning, 2026, 45(1): 60-66.

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