title: Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.
abstract: OBJECTIVE
  Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients.
  
  
  METHODS
  We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS.
  
  
  RESULTS
  A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found.
  
  
  CONCLUSIONS
  In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies.
authors.affiliation: Pediatric Endocrinology Unit, Department of Maternal and Children's Health, Fondazione IRCCS Policlinico San Matteo Pavia and Department of Internal Medicine, University of Pavia, Italy. Electronic address: d.larizza@smatteo.pv.it.
authors.forename: Daniela
authors.initials: D
authors.lastname: Larizza
authors.affiliation: Pediatric Endocrinology Unit, Department of Maternal and Children's Health, Fondazione IRCCS Policlinico San Matteo Pavia and Department of Internal Medicine, University of Pavia, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Albanesi
authors.affiliation: Biometry & Clinical Epidemiology, Scientific Direction, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: De Silvestri
authors.affiliation: Pediatric Endocrinology Unit, Department of Maternal and Children's Health, Fondazione IRCCS Policlinico San Matteo Pavia and Department of Internal Medicine, University of Pavia, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Accordino
authors.affiliation: Institute of Dermatology, Department of Clinical-Surgical, Diagnostic and Pediatric Science, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Brazzelli
authors.affiliation: 1st Department of Internal Medicine, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Gabriella Carnevale
authors.initials: GC
authors.lastname: Maffè
authors.affiliation: Pediatric Endocrinology Unit, Department of Maternal and Children's Health, Fondazione IRCCS Policlinico San Matteo Pavia and Department of Internal Medicine, University of Pavia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Calcaterra
mesh_terms: D018194:Adenomyoma / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005706:Gallbladder Neoplasms / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D013006:Growth Hormone / Q000008:administration & dosage; D020249:Hormone Replacement Therapy; D006801:Humans; D059785:Karyotype; D007621:Karyotyping; D008875:Middle Aged; D009369:Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014424:Turner Syndrome / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
chemical_list: D013006:Growth Hormone
keywords: Cancer; Children; Neoplasia; Turner syndrome; X-chromosome