This article is a US Government work and, as such, is in the public domain in the United States of America.
Turner syndrome: Four challenges across the lifespan†
Article first published online: 26 OCT 2005
Published 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 139A, Issue 2, pages 57–66, 1 December 2005
How to Cite
Sutton, E. J., McInerney-Leo, A., Bondy, C. A., Gollust, S. E., King, D. and Biesecker, B. (2005), Turner syndrome: Four challenges across the lifespan. Am. J. Med. Genet., 139A: 57–66. doi: 10.1002/ajmg.a.30911
- Issue published online: 21 NOV 2005
- Article first published online: 26 OCT 2005
- Manuscript Accepted: 13 JUN 2005
- Manuscript Received: 18 NOV 2004
- NHGRI Intramural Research Program
- NICHD Intramural Research Program
- The International Institute of Research in Ethics and Biomedicine (IIREB), Montreal, Que., Canada
- Turner syndrome;
- short stature;
- sexual development;
- health care providers
Turner syndrome (TS) is a sex chromosome condition that occurs in approximately 1/2,500 live female births. Despite the prevalence of this chromosomal condition, the challenges these women face throughout their lives are not fully understood. This qualitative research study aimed to characterize the subjective experiences of individuals with TS throughout their lifespan, to investigate their concerns and obstacles, and to offer insight into the strengths and weaknesses of health care delivery, as they perceived them. Ninety-seven girls and women with TS and 21 parents consented to participate in this interview study. Interviews were semi-structured and open-ended in design. Questions sought to elicit responses relating to existing concerns associated with their condition and positive and negative health care experiences. Participants were divided into four age categories (childhood, adolescence, adulthood, and mature adulthood) to facilitate a comparative analysis across the age spectrum. Regardless of age, infertility was the most frequently cited concern followed closely by short stature. Sexual development and function and general health were also viewed as challenges by a number of participants in each age group. Although the relative weight of these four concerns tended to shift based upon the individual's age and life experiences, all four issues remained significant throughout the lifespan. Enhanced awareness of the evolving physical and psychological challenges faced by girls and women with TS may help health care providers (HCPs) improve the quality of life for these individuals. Published 2005 Wiley-Liss, Inc.