Familial occurrence of Turner syndrome: Casual event or increased risk?

Daniela Larizza, Cesare Danesino, Paola Maraschio, Claudia Caramagna, Catherine Klersy, Valeria Calcaterra

Research output: Contribution to journalArticlepeer-review


Aim: The prevalence of Turner syndrome (TS) at birth has been estimated as approximately 1 in 2500 live female births. An increased risk of TS in subsequent pregnancies for couples who already have a daughter with TS has not been reported. Methods: We reviewed the records of 140 patients to evaluate the presence of familial TS occurrence. Results: Recurrence of TS was observed in 1.4% of our case series, which represents a 35-fold increased probability of having a second child with TS compared to no recurrence. Conclusion: This observation suggests that a risk of recurrence is possible, even though it is generally assumed that the likelihood of recurrent pregnancies with TS is similar to that in the general population. A wider study would be useful to confirm these data to improve genetic counseling for families with a daughter with TS.

Original languageEnglish
Pages (from-to)223-225
Number of pages3
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number3-4
Publication statusPublished - Apr 1 2011


  • familial occurrence
  • genetic counseling
  • risk
  • Turner syndrome.

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health


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