Is there a role for small molecule metabolite biomarkers in the development of a diagnostic test for endometriosis?

Nicola E Tomkins, Jane E. Girling, Berin A. Boughton, Berin Boughton, Sarah J. Holdsworth‐Carson
Systems biology in reproductive medicine · 2022 · vol. 68(2) , pp. 89–112 · doi:10.1080/19396368.2022.2027045 · PMID:35361022 · W4220748389
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This review summarizes 29 studies that identified potential metabolomic biomarkers for endometriosis in various specimens, but found no molecule combination has reached clinical diagnostic utility yet.

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Abstract

Endometriosis is a disease defined by the presence of benign lesions of endometrial-like glands and stroma outside the endometrial cavity. Affecting an estimated 11.4% of Australian women, symptoms include chronic pelvic pain, dysmenorrhea and infertility. The current gold standard of diagnosis requires an expensive and invasive laparoscopic surgery, resulting in delayed time to treatment. The identification of a non-invasive endometriosis biomarker – a measurable factor correlating with disease presence or activity – has therefore become a priority in endometriosis research, although no biomarker has yet been validated. As small molecule metabolites and lipids have emerged as a potential focus, this review with systematic approach, aims to summarize studies examining metabolomic biomarkers of endometriosis in order to guide future research. EMBASE, PubMed and Web of Science were searched using keywords: lipidomics OR metabolomics OR metabolome AND diagnostic tests OR biomarkers AND endometriosis, and only studies written in English from August 2000 to August 2020 were included. Twenty-nine studies met inclusion and exclusion criteria and were included. These studies identified potential biomarkers in serum, ectopic tissue, eutopic endometrium, peritoneal fluid, follicular fluid, urine, cervical swabs and endometrial fluid. Glycerophospholipids were identified as potential biomarkers in all specimens, except urine and cervical swab specimens. However, no individual molecule or metabolite combination has reached clinical diagnostic utility. Further research using large study populations with robust patient phenotype and specimen characterisation is required if we are to make progress in identifying and validating a non-invasive diagnostic test for endometriosis.

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Condition tags

mesh:D004715endometriosischronic_pelvic_paindysmenorrheainfertility

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Australia Australia Australia Australia Biomarkers Biomarkers Biomarkers Biomarkers Diagnostic Tests, Routine Diagnostic Tests, Routine Diagnostic Tests, Routine Diagnostic Tests, Routine Endometrium Endometrium Endometrium

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (58)

Cited by (11)

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