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

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Turner syndrome: Four challenges across the lifespan

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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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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: Gollust, Sarah E.
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
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: green
www.ncbi.nlm.nih.gov
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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Turner syndrome: Four challenges across the lifespan

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