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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

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2191-0251
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Volume 29, Issue 5

Issues

Familial Turner syndrome: the importance of information

Isabel Periquito / Catarina Carrusca / Joana Morgado / Brígida Robalo
  • Pediatric Endocrinology Unit, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal
  • Other articles by this author:
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/ Carla Pereira
  • Pediatric Endocrinology Unit, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal
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  • De Gruyter OnlineGoogle Scholar
/ Maria de Lurdes Sampaio
  • Pediatric Endocrinology Unit, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2016-01-29 | DOI: https://doi.org/10.1515/jpem-2015-0277

Abstract

Turner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.4)mat karyotype and a healthy son. The mother was first diagnosed by the age of 11 and did not receive contraceptive medication, due to information that she would be infertile. Both daughters were referred to an endocrinology unit and are now under growth hormone treatment, and have been growing in the 3rd percentile. This family illustrates the complexity and difficulties in counseling, follow-up and treatment in Turner syndrome, namely referring to a tertiary center, fertility and treatment such as growth hormone and hormonal replacement, due to the heterogeneity of the clinical spectrum.

Keywords: familial; information; Turner syndrome

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About the article

Corresponding author: Isabel Periquito, Pediatrics Department, Centro Hospitalar de Setúbal, Setúbal, Portugal, E-mail:


Received: 2015-07-15

Accepted: 2015-12-14

Published Online: 2016-01-29

Published in Print: 2016-05-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 5, Pages 617–620, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0277.

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