Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up

Daniela Larizza, Michela Albanesi, Annalisa De Silvestri, Giulia Accordino, Valeria Brazzelli, Gabriella Carnevale Maffè, Valeria Calcaterra

Research output: Contribution to journalArticlepeer-review


Aim of the study: 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. Conclusion: 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.

Original languageEnglish
Pages (from-to)269-273
Number of pages5
JournalEuropean Journal of Medical Genetics
Issue number5
Publication statusPublished - May 1 2016


  • Cancer
  • Children
  • Neoplasia
  • Turner syndrome
  • X-chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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