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REVIEW

Genetic and stem cell insights into the pathogenesis of endometriosis: A comprehensive review

Sheena Mariam Thomas1 ,  Ramakrishnan Veerabathiran1*
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1 Human Cytogenetics and Genomics Laboratory, Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam 60313, Tamil Nadu, India
JBM, e99010075 https://doi.org/10.14440/jbm.0148
Submitted: 24 January 2025 | Revised: 26 May 2025 | Accepted: 11 August 2025 | Published: 2 October 2025
© 2025 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Background: Endometriosis represents a predominant gynecological disease that globally impacts 10% of women in their reproductive years, often leading to pelvic pain, infertility, and other complications. Objective: This review intended to impart a comprehensive understanding of the pathophysiology, inherent genetic susceptibility, and the role of stem cells in the progression of endometriosis. It explores the diagnostic challenges posed by the diverse presentation of lesions and the involvement of genetic factors, including genes related to inflammation, immune response, steroidogenesis, neo-angiogenesis, and DNA repair. In addition, the role of adult stem cells, particularly from bone marrow and the endometrium is highlighted as an important aspect of disease progression. The review also examined how environmental factors, including early menarche, heavy menstrual flow, and Müllerian anomalies, contribute to endometriosis development. The impact on fertility is discussed concerning pelvic anatomical distortions, which affect egg release, sperm motility, and embryo transit. Furthermore, the review addressed complications, such as chronic pelvic pain, dysmenorrhea, dyspareunia, and potential obstetric issues, including an increased risk of certain cancers. Finally, it emphasized the need for improved diagnostic techniques and targeted therapies, focusing on early detection, innovative treatments, and fertility preservation. Conclusion: Advancements in genomic and molecular research are crucial to understanding the genetic basis of endometriosis and ultimately enhance the quality of life for those affected.

Keywords
Endometriosis
Pathophysiology
Genetic basis
Stem cells
Infertility
Funding
None.
Conflict of interest
The authors declare that they have no competing interests.
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