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19 - Turner's syndrome

from Part III - Management of specific disorders

Published online by Cambridge University Press:  04 May 2010

Per-Olof Janson
Affiliation:
Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
Marie-Louise Barrenäs
Affiliation:
Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
Berit Kriström
Affiliation:
Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
Charles Hanson
Affiliation:
Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
Anders Möller
Affiliation:
Department of Psychology, University of Göteborg, Sweden
Kerstin Wilhelmsen-Landin
Affiliation:
Endocrine division, Sahlgrenska University Hospital, Göteborg, Sweden
Kerstin Albertsson-Wikland
Affiliation:
Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
Adam H. Balen
Affiliation:
Leeds Teaching Hospitals, University Trust
Sarah M. Creighton
Affiliation:
University College London Hospitals
Melanie C. Davies
Affiliation:
University College London
Jane MacDougall
Affiliation:
Addenbrooke's Hospital, Cambridge
Richard Stanhope
Affiliation:
Great Ormond Street Hospital
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Summary

Introduction

Turner's syndrome (TS) is the most common sex chromosome disorder among women, affecting 1 out of 2000 liveborn girls (Gravholt et al., 1996). The main characteristics of TS include short stature and failure to enter puberty; this resuts from an accelerated rate of atresia of ovarian follicles, causing gonadal insufficiency and infertility. There is also a wide range of additional morbidities associated with the syndrome, as many other organ systems and tissues may be affected to a lesser or greater extent. Therefore, the variability of amount and degree of medical and psychosocial problems between individuals is great and the effects on health and quality of life vary from slight to profound. The need for hormone replacement therapy (HRT) to promote growth and puberty gives the paediatric endocrinologist the most central role when caring for and treating girls with TS. Among women of adult age with TS, counselling on fertility problems puts the focus on the specialists in reproductive medicine and clinical genetics, who are important members of a multidisciplinary network of different specialists in the counselling team.

Genetics

TS is a combination of clinical features caused by complete or partial loss of the second sex chromosome, with or without cell line mosaicism. It is believed that over 50% of the women with TS have a complete loss of one X chromosome (i.e. monosomy 45,X), while 20% have one normal X chromosome together with a structurally altered X chromosome.

Type
Chapter
Information
Paediatric and Adolescent Gynaecology
A Multidisciplinary Approach
, pp. 242 - 252
Publisher: Cambridge University Press
Print publication year: 2004

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References

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  • Turner's syndrome
    • By Per-Olof Janson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Marie-Louise Barrenäs, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Berit Kriström, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Charles Hanson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Anders Möller, Department of Psychology, University of Göteborg, Sweden, Kerstin Wilhelmsen-Landin, Endocrine division, Sahlgrenska University Hospital, Göteborg, Sweden, Kerstin Albertsson-Wikland, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
  • Edited by Adam H. Balen, Sarah M. Creighton, Melanie C. Davies, University College London, Jane MacDougall, Richard Stanhope
  • Book: Paediatric and Adolescent Gynaecology
  • Online publication: 04 May 2010
  • Chapter DOI: https://doi.org/10.1017/CBO9780511527036.020
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  • Turner's syndrome
    • By Per-Olof Janson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Marie-Louise Barrenäs, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Berit Kriström, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Charles Hanson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Anders Möller, Department of Psychology, University of Göteborg, Sweden, Kerstin Wilhelmsen-Landin, Endocrine division, Sahlgrenska University Hospital, Göteborg, Sweden, Kerstin Albertsson-Wikland, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
  • Edited by Adam H. Balen, Sarah M. Creighton, Melanie C. Davies, University College London, Jane MacDougall, Richard Stanhope
  • Book: Paediatric and Adolescent Gynaecology
  • Online publication: 04 May 2010
  • Chapter DOI: https://doi.org/10.1017/CBO9780511527036.020
Available formats
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Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Turner's syndrome
    • By Per-Olof Janson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Marie-Louise Barrenäs, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Berit Kriström, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Charles Hanson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Anders Möller, Department of Psychology, University of Göteborg, Sweden, Kerstin Wilhelmsen-Landin, Endocrine division, Sahlgrenska University Hospital, Göteborg, Sweden, Kerstin Albertsson-Wikland, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
  • Edited by Adam H. Balen, Sarah M. Creighton, Melanie C. Davies, University College London, Jane MacDougall, Richard Stanhope
  • Book: Paediatric and Adolescent Gynaecology
  • Online publication: 04 May 2010
  • Chapter DOI: https://doi.org/10.1017/CBO9780511527036.020
Available formats
×