Turner's syndrome

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.

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Type: Chapter
Information: Paediatric and Adolescent Gynaecology
A Multidisciplinary Approach
, pp. 242 - 252

DOI: https://doi.org/10.1017/CBO9780511527036.020 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2004

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References

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19 - Turner's syndrome