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Tuberous sclerosis complex and reproduction: a scoping review.
Lena Fredriksson Bjerke1, Nis Brix2, Mette Møller Handrup3
1Hvidovre Hospital, Kettegård Alle 36, 2650 Hvidovre, Denmark.
Journal of Gynecology Obstetrics and Human Reproduction
|July 10, 2026
Summary
Reproductive outcomes in Tuberous Sclerosis Complex (TSC) patients may be affected, with menstrual irregularities noted with everolimus. Data are scarce, necessitating further research into TSC reproductive health.
Area of Science:
- Reproductive Endocrinology
- Genetics and Rare Diseases
- Oncology
Background:
- Tuberous Sclerosis Complex (TSC) is a genetic disorder affecting multiple organs.
- Reproductive health in TSC patients is not well-characterized.
- The impact of mTOR inhibitors like everolimus on fertility is a growing concern.
Purpose of the Study:
- To review reproductive outcomes in patients with Tuberous Sclerosis Complex (TSC).
- To assess the effects of everolimus on reproductive health in TSC patients.
- To identify gaps in current knowledge regarding TSC and reproduction.
Main Methods:
- Scoping review of medical literature.
- Searched Pubmed and Embase databases.
- Included 13 articles after screening 962 studies.
Main Results:
- Spontaneous abortion rates in TSC patients are similar to the general population.
- Menstrual irregularities were reported as a side effect of everolimus (27-91.7%).
- Increased preeclampsia risk (OR 2.8) and limited data on fertility and menopause were observed.
Conclusions:
- Reproductive outcomes in TSC patients may be negatively impacted, but data are limited.
- Further population-based research is required for a comprehensive understanding of TSC reproductive health.
- Everolimus may cause menstrual cycle irregularities in TSC patients.
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