title: Self-reported reproductive health in women with tuberous sclerosis complex.
abstract: OBJECTIVE
  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%.
  
  
  CONCLUSIONS
  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.
authors: 1] 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.).
authors: Emily K
authors: EK
authors: Gabitzsch
authors: Syed S
authors: SS
authors: Hashmi
authors: Mary Kay
authors: MK
authors: Koenig
authors: Marianna H
authors: MH
authors: Raia
authors: Vicky H
authors: VH
authors: Whittemore
authors: Hope
authors: H
authors: Northrup
authors: Shahla
authors: S
authors: Nader
authors: Michael J
authors: MJ
authors: Gambello
mesh_terms: D000022:Abortion, Spontaneous / Q000453:epidemiology*; D000293:Adolescent; D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008599:Menstruation Disturbances / Q000453:epidemiology*; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology*; D060728:Reproductive Health; D057566:Self Report; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins