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Cited by 174Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersAdolescent and Pediatric Healthcare

The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.

Turner syndrome: Four challenges across the lifespan

Open access
Sutton, Erica J., McInerney‐Leo, Aideen, Bondy, Carolyn A., Gollust, Sarah E., King, Donnice, Biesecker, Barbara·2005·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.30911PMC PMC2600710
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Abstract

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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Crossref · 10.1002/ajmg.a.30911

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  1. First MB, 1995, Structured clinical interview for DSM‐IV axis I disorders—patient edition. Biometrics Research Department

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Metadata

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
ORCID
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
DOI
10.1002/ajmg.a.30911
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
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › 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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