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Roth, Christian

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?

1 / Cesare Danesino2 / Paola Maraschio2 / Claudia Caramagna1 / Catherine Klersy3 / Valeria Calcaterra1

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

Corresponding author: Prof. Daniela Larizza, Department of Pediatrics, IRCCS Policlinico S. Matteo Foundation, P.le Golgi n. 2, 27100 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

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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.

Keywords: familial occurrence; genetic counseling; risk; Turner syndrome

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