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Gynaecological Diseases: From Emergence to Translational Medicine

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 1609

Special Issue Editor

Special Issue Information

Dear Colleagues,

The Special Issue aims to advance a comprehensive understanding of female reproductive disorders across species, emphasizing their biological, clinical, and translational relevance. Gynecological diseases—including endometriosis, ovarian dysfunction, reproductive aging, polycystic ovary syndrome, uterine pathologies, infections of the reproductive tract, and hormone-related disorders—affect fertility, well-being, and long-term health in both humans and animals. Despite species-specific differences, many of these conditions share conserved molecular pathways, endocrine mechanisms, inflammatory signatures, and genetic or epigenetic determinants. By integrating comparative medicine, this Special Issue highlights how insights from animal models—both spontaneous and experimentally induced—can illuminate disease origins, pathogenic mechanisms, and potential therapeutic targets.

Key themes include early detection and biomarker discovery, the impact of environmental and metabolic stressors on reproductive function, translational insights from omics technologies, and innovations in diagnostics, imaging, and assisted reproductive technologies. Particular emphasis is placed on cross-species hormonal regulation, immune–endocrine interactions, microbiome influences, and mitochondrial and metabolic contributions to gynecological health.

By bringing together human and veterinary research, this Special Issue underscores the value of a One Health approach in gynecology, demonstrating how shared mechanisms across species can accelerate therapeutic development, improve reproductive outcomes, and contribute to a deeper understanding of female reproductive biology.

Dr. Pawel Kordowitzki
Guest Editor

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Keywords

  • gynaecological diseases
  • reproductive biology
  • endometriosis
  • ovarian dysfunction

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Published Papers (1 paper)

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Research

15 pages, 4923 KB  
Article
Endometriosis: From Genes to Global Burden
by Pawel Kordowitzki, Liam P. Kelley and Sylvia Mechsner
Int. J. Mol. Sci. 2026, 27(1), 151; https://doi.org/10.3390/ijms27010151 - 23 Dec 2025
Viewed by 1405
Abstract
Endometriosis has a significant impact on the social, psychological, psychosomatic, and physical aspects of women’s lives. There is increasing evidence that endometriosis has to be seen as a systemic and complex disorder with a multifactorial etiology, accompanied by numerous other pathologies, such as [...] Read more.
Endometriosis has a significant impact on the social, psychological, psychosomatic, and physical aspects of women’s lives. There is increasing evidence that endometriosis has to be seen as a systemic and complex disorder with a multifactorial etiology, accompanied by numerous other pathologies, such as mental disorders and even cancer. Herein, we analyzed Disability-Adjusted Life Years (DALYs) and Years Lived with Disability (YLDs) generated from the Global Burden of Disease Study (GBD 2021), which are key metrics used to measure the worldwide impact of diseases. Besides, differential gene expression data generated from the Turku Endomet Database were calculated. Briefly, log2-transformed gene expression counts were investigated using linear modeling with the function expression ~ condition to generate log2 fold changes and p-values for each gene. This enabled a precise comparative analysis of mRNA expression levels between control endometrium and various endometriosis-affected tissues, including ovarian endometrioma, peritoneal lesions, and deep endometriosis. Expression patterns of specific genes related to pain and malignant turnover within endometriosis samples and controls have been analyzed. The identification of upregulated genes like FOS, DES, SIRT1, SBDS, SRF, SPN, P2RX1, TEAD3, and SLITRK3, alongside downregulated genes such as KIF22, KIF25, GAS2L2, and HINT3, highlights a broad transcriptional reprogramming within endometriotic tissues. The clustering analysis, which reveals pain-related genes (SRP14/BMF, GDAP1, MLLT10, BSN, and NGF), further solidifies the genetic basis for the chronic and often debilitating pain experienced by patients with endometriosis. In 2021, women with endometriosis experienced the highest rates of total YLDs at 19.98%, with anxiety contributing 17.21% and major depression 8.12%, equating to mean YLDs of 15–24 years. In conclusion, our findings reinforce the need for adopting a holistic, psychosomatic approach to managing endometriosis. The identified genetic markers related to pain provide a biological basis for the profound physical suffering. At the same time, the robust DALYs and YLDs data quantify the devastating impact on mental health, particularly highlighting the significant burden of depression and anxiety. Full article
(This article belongs to the Special Issue Gynaecological Diseases: From Emergence to Translational Medicine)
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