title: Thrombophilic screening in Turner syndrome.
abstract: OBJECTIVE
  The aim of this study was to determine, in patients with Turner syndrome (TS), the prevalence of thrombophilic disorders correlating with a higher risk of venous thromboembolism (VTE), to evaluate if thrombophilia is associated with the genetic features of these patients and whether screening before hormone replacement therapy (HRT) is advisable.
  
  
  METHODS
  We examined 82 TS patients. In all patients we analyzed activated factor VIII:C, fibrinogen, antithrombin (AT), protein C (PC), protein S (PS), activated PC resistance, and homocysteine. For every patient, an investigation for mutations in prothrombin G20210A, factor V R506Q, methylenetetrahydropholate reductase (MTHFR) C 677T and A1298C was conducted.
  
  
  RESULTS
  Low values of PC in 3 patients (3.70%), low values of PS in 12 (14.81%), and hyperhomocysteinemia in 4 (4.87%) were found; 52 girls (64.2%) presented hyperfibrinogenemia. Three patients were heterozygous for the prothrombin G20210A allele mutation (3.66%) and the factor V mutation was present in 4 patients (4.88%). No TS patient had a homozygous mutation. Mutations in the MTHFR gene were present in 62 girls, in 17 patients (20.7%) they were homozygous and in 45 patients (54.88%) heterozygous.
  
  
  CONCLUSIONS
  Considering the increased risks with the association between VTE and the higher prevalence of PC and PS deficiencies, TT genotype mutations and high level of fibrinogen, it is advisable to perform a complete thrombophilia screening in TS patients before starting HRT.
authors.affiliation: Department of Pediatrics, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy. v.calcaterra@smatteo.pv.it
authors.forename: V
authors.initials: V
authors.lastname: Calcaterra
authors.forename: G
authors.initials: G
authors.lastname: Gamba
authors.forename: N
authors.initials: N
authors.lastname: Montani
authors.forename: A
authors.initials: A
authors.lastname: de Silvestri
authors.forename: V
authors.initials: V
authors.lastname: Terulla
authors.forename: G
authors.initials: G
authors.lastname: Lanati
authors.forename: D
authors.initials: D
authors.lastname: Larizza
mesh_terms: D000293:Adolescent; D000328:Adult; D000990:Antithrombin III / Q000378:metabolism; D015897:Comorbidity; D005169:Factor VIII / Q000378:metabolism; D005260:Female; D005340:Fibrinogen / Q000378:metabolism; D005838:Genotype; D006710:Homocysteine / Q000378:metabolism; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D011486:Protein C / Q000378:metabolism; D017293:Protein S / Q000378:metabolism; D011516:Prothrombin / Q000235:genetics; D013923:Thromboembolism / Q000453:epidemiology / Q000209:etiology; D019851:Thrombophilia / Q000150:complications / Q000453:epidemiology* / Q000503:physiopathology; D014424:Turner Syndrome / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: D011486:Protein C; D017293:Protein S; D006710:Homocysteine; D000990:Antithrombin III; D011516:Prothrombin; D005169:Factor VIII; D005340:Fibrinogen; D042965:Methylenetetrahydrofolate Reductase (NADPH2)