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Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing
Elinor Chelsom Vogt1,2, Eirik Bratland1,3, Siren Berland3
1Department of Clinical Science, University of Bergen, Bergen, Norway.
Human Reproduction (Oxford, England)
|November 13, 2023
Summary
Extensive screening using next-generation sequencing and autoantibody assays significantly improved the diagnosis of primary ovarian insufficiency (POI) causes. This approach increased etiological diagnosis from 11% to 41% in women with POI.
Area of Science:
- Reproductive Endocrinology
- Genetics
- Immunology
Background:
- Primary ovarian insufficiency (POI) affects approximately 1% of women, presenting heterogeneously with unknown etiology in most cases.
- Genetic, autoimmune, and environmental factors contribute to POI, but current diagnostic methods identify causes in only a minority of patients.
Purpose of the Study:
- To investigate the efficacy of advanced screening techniques in determining the cause of primary ovarian insufficiency (POI).
- To enhance the diagnostic yield for identifying the underlying etiology of POI in women with previously unknown causes.
Main Methods:
- A prospective cross-sectional study involving 100 women with newly diagnosed POI of unknown cause.
- Utilized whole exome sequencing (including a 103-gene ovarian panel), FMR1 gene analysis, and autoantibody assays alongside standard investigations.
- Identified chromosomal aberrations, FMR1 premutations, POI-related genetic variants, and autoimmune markers.
Main Results:
- The comprehensive screening approach increased the determination of etiological diagnosis for POI from 11% to 41%.
- Identified specific causes including chromosomal aberrations (8%), FMR1 premutations (3%), genetic variants (16%), and autoimmune POI (3%).
- Discovered a novel cause of monogenic POI with a homozygous pathogenic variant in the ZSWIM7 gene.
Conclusions:
- Advanced genetic and autoimmune screening significantly improves the diagnostic rate for primary ovarian insufficiency (POI).
- The findings support the integration of next-generation sequencing and autoantibody assays into routine POI diagnostics.
- Further research, including family studies and addressing genomic database diversity, is needed to refine diagnostic accuracy and uncover new genetic markers.
