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Self-reported reproductive health in women with tuberous sclerosis complex
Emily K Gabitzsch1, Syed S Hashmi, Mary Kay Koenig
11] Genetic Counseling Program, Graduate School of Biomedical Science, University of Texas Health Science Center at Houston, Houston, Texas, USA [2] Current address: Center for Personalized Healthcare, Cleveland Clinic, Cleveland, Ohio, USA (E.K.G.) Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA (M.J.G.).
Purpose:
Little is known about sex-specific manifestations of tuberous sclerosis complex. Inactivating mutations in the TSC1 and TSC2 genes cause tuberous sclerosis complex, and recent evidence points to a crucial role for these genes in maintaining appropriate ovarian function. The main objective of this study was to estimate reproductive dysfunction in a sample of women with tuberous sclerosis complex.
Methods:
We designed a three-part questionnaire that included demographic information, reproductive history, and tuberous sclerosis complex history, and developed strict criteria to assess patterns in menstrual cyclicity; we analyzed 182 responses from female adult members of the Tuberous Sclerosis Alliance.
Results:
More than one-third of women in our sample displayed some degree of menstrual irregularity, and their reported miscarriage rate was 41%. More than 4% of women had reproductive histories suggestive of premature ovarian insufficiency, higher than the general population estimate of 1%.
Conclusion:
Our data reveal an underappreciated aspect of tuberous sclerosis complex in affected women, suggesting that a further exploration of the role the tuberous sclerosis complex genes play in reproductive function is warranted.
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