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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 / Roth, Christian / 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

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
Source Normalized Impact per Paper (SNIP) 2016: 0.602

Online
ISSN
2191-0251
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Volume 24, Issue 3-4 (Apr 2011)

Issues

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

Daniela Larizza / Cesare Danesino
  • Medical Genetics, Department of Human and Hereditary Pathology, University of Pavia, Pavia, Italy
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Paola Maraschio
  • Medical Genetics, Department of Human and Hereditary Pathology, University of Pavia, Pavia, Italy
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Claudia Caramagna
  • Department of Pediatrics, University of Pavia and IRCCS Policlinico San Matteo Foundation, Pavia, Italy
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Catherine Klersy
  • Biometry and Clinical Epidemiology, Scientific Direction, IRCCS Policlinico San Matteo Foundation, Pavia, Italy
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Valeria Calcaterra
  • Department of Pediatrics, University of Pavia and IRCCS Policlinico San Matteo Foundation, Pavia, Italy
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2011-04-14 | DOI: https://doi.org/10.1515/jpem.2011.091

Abstract

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

About the article

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


Published Online: 2011-04-14

Published in Print: 2011-04-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2011.091.

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