Gene expression of aromatase, SF-1, and HSD17B2 in menstrual blood as noninvasive diagnostic biomarkers for endometriosis
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This study investigated gene expression of aromatase, SF-1, and HSD17B2 in menstrual blood to determine their potential as noninvasive diagnostic biomarkers for endometriosis.
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Abstract
OBJECTIVE: Endometriosis diagnostic delays are still encountered due to the lack of a reliable, noninvasive diagnostic test. Besides, menstrual blood is a relatively untapped field for diagnostics, yet it provides a readily accessible source for investigating common gynecological conditions. In the present study, we aim to evaluate the expression levels of menstrual blood aromatase, SF-1, and HSD17B2 from women with and without endometriosis and their diagnostic performance.
METHODS: A total of 40 subjects participated in this study, including 20 patients from each endometriosis and non-endometriosis group. The endometriosis group comprised patients with proven endometriosis confirmed by pathological diagnosis and pelvic ultrasound examination, then requiring endometrial biopsy determined by the clinicians. The non-endometriosis group consisted of women who had primary and secondary infertility and underwent endometrial examination without any visible endometriosis lesion. The menstrual blood and eutopic endometrial tissue of enrolled subjects were collected, and the relative expression of the genes was performed by quantitative real-time polymerase chain reaction (qPCR). ROC curve was used to evaluate the diagnostic efficacy of aromatase, SF-1, and HSD17B2.
RESULTS: We found significantly higher expressions of aromatase, SF-1, and HSD17B2 in the menstrual blood of the endometriosis group compared to non-endometriosis (P < 0.05). In contrast, examination of eutopic endometrial tissue of both groups only found significant in HSD17B2 (P < 0.05), while aromatase and SF-1 showed no statistically significant variance. The Area Under Curve (AUC) of aromatase, SF-1, and HSD17B2 in the menstrual blood was 0.977, 0.862, and 0.807, respectively. The optimal cutoff value was determined to be >1.63 (sensitivity = 95 % and specificity = 90 %) for aromatase, >1.71 (sensitivity = 90 % and specificity = 80 %) for SF-1, and >1.83 (sensitivity = 80 % and specificity = 75 %) for HSD17B2.
CONCLUSION: Our study showed that aromatase, SF-1, and HSD17B2 in the menstrual blood solidly discriminate between endometriosis and non-endometriosis patients with high diagnostic accuracy. However, further confirmation in larger cohorts is required to validate the reliability of these biomarkers to endometriosis.
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Cited by (6)
- Molecular Insights Into Endometriosis for Early Detection and Therapeutic Targets 2026
- Luoshi Neiyi prescription mitigates endometriosis by modulating nuclear receptor subfamily 5 group A member 1 methylation 2026
- Transcriptome profiling to identify blood biomarkers for peritoneal endometriosis 2025
- Endometriosis in Adolescence: A Narrative Review of the Psychological and Clinical Implications 2025
- Precision Therapeutic and Preventive Molecular Strategies for Endometriosis-Associated Infertility 2025
- Integrated Bioinformatic Analysis Reveals the Gene Signatures, Epigenetic Roles, and Regulatory Networks in Endometriosis 2024
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- last seen: 2026-08-07T06:07:27.085738+00:00
- openalex
- last seen: 2026-06-10T17:14:06.276822+00:00
- pubmed
- last seen: 2026-08-07T06:05:24.254623+00:00
- unpaywall
- last seen: 2026-06-02T02:00:03.124865+00:00
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