Tuberous sclerosis complex and reproduction: a scoping review

In this scoping review, we aim to review reproductive outcomes in patients with Tuberous Sclerosis Complex (TSC) in terms of puberty, menstrual cycle irregularities, fertility rate, infertility, use of in vitro fertilization, spontaneous abortions, pregnancy complications and menopause/premature ovarian insufficiency (POI). We also assess how the mTOR inhibitor, everolimus, affects reproductive outcomes in patients with TSC.

We searched the medical databases Pubmed and Embase. A total of 962 studies were screened, of which 67 were assessed for full text eligibility, resulting in the inclusion of 13 articles.

The rate of spontaneous abortions was comparable to the rate in the general population. Menstrual cycle irregularities were identified as a side effect of everolimus, but the percentage of women affected varied widely, ranging from 27 to 91.7%. One study found a relatively high risk of preeclampsia in women with TSC with an odds ratio of 2.8. For the remaining reproductive outcomes, the risk was either comparable to the risk in the general population (puberty, spontaneous abortions and other pregnancy complications) or too scarce to draw conclusions (fertility rate, infertility, use of in vitro fertilization and menopause/POI).

Findings from this scoping review suggest that reproductive outcomes may be adversely affected in patients with TSC although data are generally scarce. More data, preferably linked with population-based data, are needed to comprehensively evaluate reproductive health in patients with TSC.