title: Hormonal profile and fertility in patients with Anderson-Fabry disease.
abstract: Anderson-Fabry disease is a glycosphingolipid storage disorder with an X-linked recessive inheritance. The alpha-galactosidase A deficiency leads to a progressive accumulation of globotriaosylceramide in the endothelium and tissue cells of various organs. The kidney, heart and brain are predominantly affected. Reports on endocrine function and fertility rates in patients with Anderson-Fabry disease are sparse. In the present study, we assessed ovarian, testicular and adrenal function in a cohort of patients with Anderson-Fabry disease. Plasma follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, testosterone, sex hormone-binding globulin, somatotropin, insulin-like growth factor-I and serum cortisol were measured in 13 patients (six female and seven male), currently observed in an outpatient clinic. The profile revealed an undisturbed hormonal function and a normal fertility rate in both male and female Anderson-Fabry patients when compared with the corresponding Austrian population.
authors.affiliation: Division of Nephrology and Dialysis,Medical University of Vienna, Vienna, Austria. anna-christine.hauser@meduniwien.ac.at
authors.forename: A C
authors.initials: AC
authors.lastname: Hauser
authors.forename: A
authors.initials: A
authors.lastname: Gessl
authors.forename: F
authors.initials: F
authors.lastname: Harm
authors.forename: M
authors.initials: M
authors.lastname: Wiesholzer
authors.forename: J
authors.initials: J
authors.lastname: Kleinert
authors.forename: M
authors.initials: M
authors.lastname: Wallner
authors.forename: T
authors.initials: T
authors.lastname: Voigtländer
authors.forename: C
authors.initials: C
authors.lastname: Bieglmayer
authors.forename: G
authors.initials: G
authors.lastname: Sunder-Plassmann
mesh_terms: D000305:Adrenal Cortex Hormones / Q000097:blood*; D000328:Adult; D000368:Aged; D016009:Chi-Square Distribution; D000795:Fabry Disease / Q000097:blood* / Q000628:therapy; D005260:Female; D005298:Fertility; D012739:Gonadal Steroid Hormones / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012016:Reference Values; D006435:Renal Dialysis
chemical_list: D000305:Adrenal Cortex Hormones; D012739:Gonadal Steroid Hormones