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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

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Volume 29, Issue 5


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:
  • De Gruyter OnlineGoogle Scholar
/ Carla Pereira
  • Pediatric Endocrinology Unit, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal
  • Other articles by this author:
  • 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


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


  • 1.

    Sybert VP, Mccauley E. Turner’s syndrome. N Engl J Med 2004; 351:1227–38.Google Scholar

  • 2.

    Frias JL, Davenport ML. Health supervision for children with turner syndrome. Pediatrics 2003;111:692–702.Web of ScienceGoogle Scholar

  • 3.

    Portnoï MF, Chantot-Bastaraud S, Christin-Maitre S, Carbonne B, Beaujard MP, et al. Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. Eur J Med Genet 2012;55:635–40.Google Scholar

  • 4.

    Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10–25.Google Scholar

  • 5.

    Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004;151:657–87.Google Scholar

  • 6.

    Hadnott TN, Gould HN, Gharib AM, Bondy CA.Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril 2011;95:2251–6.Web of ScienceGoogle Scholar

  • 7.

    Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril 2011;95:2507–10.Google Scholar

  • 8.

    Hewitt JK, Jayasinghe Y, Amor DJ, Gillam LH, Warne GL, et al. Fertility in turner syndrome. Clin Endocrinol (Oxf) 2013;79: 606–14.Google Scholar

  • 9.

    Kiess W, Penke M, Gorski T, Körner A, Hoppmann J, et al. Turner syndrome – working together with patients and their families. J Pediatr Endocrinol Metab 2015;28:1199–201.Google Scholar

  • 10.

    Starke M, Wikland KA, Möller A. Parents’ experiences of receiving the diagnosis of Turner syndrome: An explorative and retrospective study. Patient Educ Couns 2002;47: 347–54.Google Scholar

  • 11.

    Pinsker JE. Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab 2012;97:994–1003.Google Scholar

  • 12.

    Saenger P, Wikland A, Davenport C, Gravholt C, Hintz R, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001;86:3061–9.Google Scholar

  • 13.

    De Lemos-Marini SH, Morcillo AM, Baptista MT, Guerra-Jr G, Maciel-Guerra AT. Spontaneous final height in Turner’s syndrome in Brazil. J Pediatr Endocrinol Metab 2007;20: 1207–14.Google Scholar

  • 14.

    Cavallo L, Gurrado R. Endogenous growth hormone secretion does not correlate with growth in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome. J Pediatr Endocrinol Metab 1999;12:623–7.Google Scholar

  • 15.

    Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9: 695–702.Google Scholar

  • 16.

    Gravholt CH, Naeraa RW, Fisker S, Christiansen JS. Body composition and physical fitness are major determinants of the growth hormone-insulin-like growth factor axis aberrations in adult Turner’s syndrome, with important modulations by treatment with 17β-estradiol. J Clin Endocrinol Metab 1997;82:2570–7.Google Scholar

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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