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Women’s health in osteogenesis Imperfecta: a scoping review

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Abstract

Purpose

Osteogenesis Imperfecta (OI) is a group of connective tissue disorders most often caused by quantitative or qualitative changes in type I collagen. The clinical phenotype is heterogeneous. Women’s health in OI has been very sparsely investigated, and whether periods of skeletal stress throughout adulthood come with an increased risk of fractures and other complications due to OI is unknown. The present review covers the current literature on menarche, pregnancy and menopause, and periods of skeletal stress in women with OI.

Methods

Over 1300 articles published between 1967 and 2026 were identified and screened for relevance.

Results

The literature suggests that the age of menarche reflects the general population. Fertility may be preserved – especially in the milder affected phenotypes. Most pregnancies are successful; however, data suggest that they may be associated with a higher risk of complications and fractures compared to the general population. Likewise, caesarean section is chosen more frequently in women with OI compared to the general population. Menopause is sparsely described, and it has not been investigated whether the consequences of and symptoms associated with menopause are different in women with OI compared to the general population. The current evidence is often limited by small study size and OI subtypes.

Conclusion

Overall, the evidence to guide clinicians in monitoring and treatment of women’s health in OI is limited, and more studies are needed. As women with OI present as a very heterogeneous group, managing pregnancy and menopause requires individualized monitoring with focus on known complications.

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Acknowledgements

Adult OI working group.

Funding

This review received no specific grant or external funding from any funding agency in the public, commercial, or not-for-profit sectors.

Author information

Authors and Affiliations

  1. Dept. of Medical Diagnostic Centre, Regional Hospital of Viborg, Skive, Silkeborg and Hammel Neurorehabilitation and Research Centre, Skive, Denmark

    Anne Kristine Amstrup

  2. Dept. of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

    Anne Kristine Amstrup, Bente Langdahl & Jannie Dahl Hald

  3. Department of Endocrinology, Bone and Mineral Unit, Odense University Hospital, Odense, Denmark

    Lars Folkestad

  4. Department of Clinical Research, University of Southern Denmark, Odense, Denmark

    Lars Folkestad

  5. Molecular Endocrinology Department, Odense University Hospital, Odense, Denmark

    Lars Folkestad

  6. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

    Pernille Axel Gregersen

  7. Centre for Rare Disorders, Aarhus University Hospital, Aarhus, Denmark

    Pernille Axel Gregersen & Jannie Dahl Hald

  8. Clinical Medicine, Aarhus University, Aarhus, Denmark

    Pernille Axel Gregersen & Bente Langdahl

  9. Bone and Mineral Research Unit, Department of Medicine, Oregon Health & Science University, Portland, OR, USA

    Eric Orwoll

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  1. Anne Kristine Amstrup
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  2. Lars Folkestad
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  4. Eric Orwoll
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  5. Bente Langdahl
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  6. Jannie Dahl Hald
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Contributions

AKA is the guarantor, performed the major article search and drafted the first version of the article. JDH designed the review, initiated the article search, drafted the introduction section and reviewed the final manuscript. PAG contributed with genetics. BL, LF, EO participated in the planning of the review and revision of the manuscript. All authors revised the paper critically for intellectual content and approved the final version. All authors agree to be accountable for the work and to ensure that any questions relating to the accuracy and integrity of the paper are investigated and properly resolved.

Corresponding author

Correspondence to Anne Kristine Amstrup.

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Competing interests

Anne Kristine Amstrup, Pernille Axel Gregersen and Jannie Dahl Hald declare that they have no conflict of interest. Bente Langdahl: Advisor and speaker for UCB, Angitia, Mereo, Samsung-Bioepis, Gedeon-Ricter, Amgen, Sandoz, Danish Osteoporosis Society. Lars Folkestad: OIFE advisory board, speaker for UCB. Funding from Novo Nordisk, Brittle Bone Society, OUH overlægeråd. Eric Orwoll: Advisor and speaker for Antigitia, Amgen and Ultragenyx.

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Amstrup, A.K., Folkestad, L., Gregersen, P.A. et al. Women’s health in osteogenesis Imperfecta: a scoping review. Osteoporos Int (2026). https://doi.org/10.1007/s00198-026-08295-w

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