Abstract
PurposeThe purpose of our study is to expand the knowledge regarding intrinsic reproductive dysfunction in females with TSC and to explore the impact of mTOR inhibitors (mTORi) on menstrual irregularity in the Tuberous Sclerosis Complex (TSC) community.MethodsAn electronic survey composed of author-designed questions set out to evaluate reproductive history, presence of menstrual irregularities, mTORi use, as well as maternal reproductive history among females with TSC.ResultsOf the 68 responses from females with TSC regarding age of menarche, the average age was 12.3 years. 56.5% (n = 48) of respondents reported irregular menstrual cycles and noted a total of 102 menstrual irregularities. There was a cohort of 35 women with a reported history of mTORi use. Of these women, 68.6% (n = 24) reported irregular menstrual cycles after taking mTORi. In comparison, among the females with no history of mTORi use (n = 50) only 48% reported irregular menstrual cycles (n = 24).ConclusionsOur data expands the knowledge regarding intrinsic menstrual dysregulation present in women with TSC, demonstrates a rate of menstrual irregularities among females taking mTORi, and identifies a tendency toward early menarche that may be a previously unrecognized feature of TSC.
Highlights
Tuberous sclerosis complex (TSC) is an autosomal dominant condition that is characterized by the growth of hamartomas across multiple organ systems, notably the skin, heart, brain, kidneys, and lungs
The molecular genetic etiology of TSC is pathogenic variants in the TSC1 or TSC2 gene, which encode for the proteins hamartin and tuberin, respectively
The germline pathogenic variant in either TSC1 or TSC2 conveys a reduction in functional protein, the regulation of mammalian target of rapamycin complex 1 (mTORC1) remains intact
Summary
Tuberous sclerosis complex (TSC) is an autosomal dominant condition that is characterized by the growth of hamartomas across multiple organ systems, notably the skin, heart, brain, kidneys, and lungs. The molecular genetic etiology of TSC is pathogenic variants in the TSC1 or TSC2 gene, which encode for the proteins hamartin and tuberin, respectively. Hamartin and tuberin form heterodimers to regulate mammalian target of rapamycin complex 1 (mTORC1) [4,5,6]. The mTOR pathway uses intracellular and extracellular signals to control cell growth, proliferation, and Menstrual Irregularities in TSC metabolism [7]. The germline pathogenic variant in either TSC1 or TSC2 conveys a reduction in functional protein, the regulation of mTORC1 remains intact. The second somatic pathogenic variant in the remaining TSC1 or TSC2 allele leads to dysregulation of the mTOR pathway and contributes to the characteristic clinical stigmata associated with TSC [2, 8]
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