title: Severe mixed connective tissue disease in a woman with pure gonadal dysgenesis: estrogens do not influence disease expression.
abstract: Mixed connective tissue disease (MCTD) is more prevalent in women during the child bearing years, suggesting that estrogens may play a role in disease expression. We describe a woman who developed MCTD despite pure gonadal dysgenesis, i.e., a disease associated with permanently very low plasma levels of estrogens. The onset of MCTD and subsequent life threatening disease course over 15 years occurred while she declined exogenous hormonal replacement therapy. Concurrent presence of estrogens is not necessary for onset, persistence, or exacerbation of severe MCTD.
authors.affiliation: Hôpital Notre-Dame, CHUM, and Department of Medicine, Université de Montréal Faculty of Medicine, Québec, Canada.
authors.forename: T
authors.initials: T
authors.lastname: Grodzicky
authors.forename: R
authors.initials: R
authors.lastname: Lahita
authors.forename: R
authors.initials: R
authors.lastname: Comtois
authors.forename: J L
authors.initials: JL
authors.lastname: Senécal
mesh_terms: D000293:Adolescent; D004958:Estradiol / Q000097:blood; D004967:Estrogens / Q000097:blood*; D005260:Female; D006059:Gonadal Dysgenesis / Q000097:blood / Q000150:complications*; D006801:Humans; D007621:Karyotyping; D008947:Mixed Connective Tissue Disease / Q000097:blood / Q000150:complications*; D016312:Treatment Refusal
chemical_list: D004967:Estrogens; D004958:Estradiol