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作者

Ting Guo Hongyuan Liu Bingying Xu Yu Qi Keyan Xu Xinyi Wu Xinmiao He Yingying Qin Zi-Jiang Chen

作者单位

⁷Research Unit of Gametogenesis and Health of ART-Offspring, Chinese Academy of Medical Sciences (No.2021RU001) , Jinan, Shandong, 250012 , China ⁸Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics , Shanghai , China ⁴Shandong Technology Innovation Center for Reproductive Health , Jinan, Shandong, 250012 , China ⁵Shandong Provincial Clinical Research Center for Reproductive Health , Jinan, Shandong, 250012 , China ³Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education , Jinan, Shandong, 250012 , China ⁶Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University , Jinan, Shandong, 250012 , China ¹State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University , 250012 , China ⁹Department of Reproductive Medicine, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai , China ²National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University , Jinan, Shandong, 250012 , China

刊名

Endocrine Reviews

ISSN

0163-769X

关键词

Premature ovarian insufficiency Epidemiology Genetics Epigenetics Intervention

摘要

Premature ovarian insufficiency is a highly heterogeneous reproductive disorder in both its etiology and clinical presentation. The epidemiological characteristics of POI suggest that its occurrence likely involves a combination of genetic and environmental factors. Deciphering the pathogenic mechanisms of POI is crucial for improving reproductive outcomes as well as managing the long-term complications associated with ovarian dysfunction. Recent studies expand the list of POI-causal genes and ...更多

Premature ovarian insufficiency is a highly heterogeneous reproductive disorder in both its etiology and clinical presentation. The epidemiological characteristics of POI suggest that its occurrence likely involves a combination of genetic and environmental factors. Deciphering the pathogenic mechanisms of POI is crucial for improving reproductive outcomes as well as managing the long-term complications associated with ovarian dysfunction. Recent studies expand the list of POI-causal genes and promote the viability of genetic diagnosis. However, whole exome sequencing studies in large-scale POI cohorts and genome-wide association studies on the age at natural menopause have uncovered a complex genetic architecture underlying POI that includes monogenic and oligogenic inheritance modes, emphasizing the difficulties in genetic diagnosis, especially for the isolated cases. Moreover, our understanding of the physiology of ovarian aging has greatly benefited from recent advances in multi-omics analysis, expanding our perspective on the pathogenic mechanisms and potential targeted therapeutic strategies for POI. In this review, we summarize the epidemiological characteristics of POI, as well as progress in genetic and epigenetic etiologies, and discuss advances in pharmacology and material science that will likely contribute to new interventions for ovarian aging. Finally, this review offers new insights into prospects for early diagnosis and treatment of POI, while identifying persistent challenges and potential solutions to be addressed through future research.收起

文献类型

期刊