Turner syndrome: four challenges across the lifespan
Open accessAbstract
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.
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Distress associated with infertility may persist even beyond typical childbearing years, representing a lifelong challenge for individuals with TS.
“Distress associated with infertility may persist even beyond typical childbearing years, representing a lifelong challenge for individuals with TS.77,565”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [77]
Many individuals with TS identify fertility concerns as among the most distressing aspects of living with TS, ahead of short stature, lack of sexual development during adolescence, and fear and uncertainty regarding the long-term effects of GH and HRT.
“Many individuals with TS identify fertility concerns as among the most distressing aspects of living with TS, ahead of short stature, lack of sexual development during adolescence, and fear and uncertainty regarding the long-term effects of GH and HRT.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [77]
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- Authors
- Sutton, E. J., McInerney‐Leo, A., Bondy, C. A., Gollust, S. E., King, D., & Biesecker, B.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Biesecker, Barbara
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2005-10-26
- Volume
- 139A
- Issue
- 2
- Pages
- 57-66
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC2600710
- OpenAlex
- W2109533807
- Cited by
- 171
- References
- 47
- Citations by year
- 2026: 5 · 2025: 9 · 2024: 7 · 2023: 10 · 2022: 14 · 2021: 7 · 2020: 9 · 2019: 18 · 2018: 7 · 2017: 2 · 2016: 6 · 2015: 1 · 2014: 4 · 2013: 5 · 2012: 5
- FWCI
- 2.52
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion, public-domain)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Human Genome Research Institute (Z01HG200317)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
- Keywords
- Turner syndrome, sex chromosome abnormalities, infertility, short stature, sexual development, health care experiences, patient perspectives, quality of life, health care delivery
- MeSH terms
- Adolescent, Adult, Child, Female, Humans, Interviews as Topic, Karyotyping, Middle Aged, Socioeconomic Factors, Turner Syndrome, Qualitative Research
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