Women's health in osteogenesis Imperfecta: a scoping review

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.

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

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.

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.