Journal of Pediatric Endocrinology and Metabolism
Editor-in-Chief: Kiess, Wieland
Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma
Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi
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Familial occurrence of Turner syndrome: casual event or increased risk?
1Department of Pediatrics, University of Pavia and IRCCS Policlinico San Matteo Foundation, Pavia, Italy
2Medical Genetics, Department of Human and Hereditary Pathology, University of Pavia, Pavia, Italy
3Biometry and Clinical Epidemiology, Scientific Direction, IRCCS Policlinico San Matteo Foundation, Pavia, Italy
Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 24, Issue 3-4, Pages 223–225, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2011.091, April 2011
- Published Online:
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.