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 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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
In the citing paper
“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]
Citations
Cites
Society and the Adolescent Self-Image
Rosenberg, M. (1965) · doi:10.1515/9781400876136 · Cited by 30,126
Erikson, E. H. (2026) · Zenodo (CERN European Organization for Nuclear Research) · doi:10.5281/zenodo.18614668 · Cited by 13,081
Making sense of qualitative data
Coffey, A. J., & Atkinson, P. (1996) · Medical Entomology and Zoology · Cited by 3,855
Perry, J. B., & Erikson, E. H. (1965) · Journal of Marriage and the Family · doi:10.2307/349827 · Cited by 3,847
Resilience in the Face of Catastrophe: Optimism, Personality, and Coping in the Kosovo Crisis
Riolli, L., Savicki, V., & Cepani, A. (2002) · Journal of Applied Social Psychology · doi:10.1111/j.1559-1816.2002.tb02765.x · Cited by 2,166
Theory and Practice of Counseling and Psychotherapy
Walters, L. H., & Corey, G. (1980) · Family Relations · doi:10.2307/583738 · Cited by 1,420
Rosenfeld, R. G. (1990) · Cited by 501
Turner's Syndrome in Adulthood
Elsheikh, M., Dunger, D. B., Conway, G. S., & Wass, J. A. H. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.1.0457 · Cited by 395
The role of androgen in the maintenance of sexual functioning in oophorectomized women.
Sherwin, B. B., & Gelfand, M. M. (1987) · Psychosomatic Medicine · doi:10.1097/00006842-198707000-00009 · Cited by 394 · cited 2×
“Since androgens appear to be important for libido and sexual satisfaction in women [Sherwin and Gelfand, 1987; Goldstat et al., 2003], this relative androgen deficiency may also contribute to impaired sexuality in women with TS.”
BackgroundManagement of Genetic Syndromes
(2005) · Wiley eBooks · doi:10.1002/0471695998 · Cited by 392
Flagged first, then by citations
Research works printed but not linked: 1
- First MB, 1995, Structured clinical interview for DSM‐IV axis I disorders—patient edition. Biometrics Research Department
Cited by
Sorted by citations
Items 101–174 of 174
What do families affected by Turner Syndrome think of ovarian tissue freezing in childhood?
Fearon, K. (2023) · Human Fertility · doi:10.1080/14647273.2023.2194555 · Cited by 2
Parental Sex Chromosome Aneuploidy
Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0013 · Cited by 2
Prenatal Diagnostic Procedures
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0025 · Cited by 2
Genetic Counselling: Psychological Issues
Biesecker, B. B. (2016) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0005616.pub3 · Cited by 2
Self-citationGravholt, C. H., Viuff, M. H., Stochholm, K., & Andersen, N. H. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64353-2 · Cited by 2
Rare Presentation of Mosaic Form (45X/46XX) of Tuner’s Syndrome
Mathuriya, G., & Dave, A. (2013) · The Journal of Obstetrics and Gynecology of India · doi:10.1007/s13224-012-0296-8 · Cited by 1
Hanna, C. (2020) · Springer eBooks · doi:10.1007/978-981-13-7864-5_19 · Cited by 1
Exploring the experiences of adult patients with turner syndrome at a multidisciplinary clinic
Shin, S., Liang, L., Korenvain, C., McCarthy, L. M., & Lega, I. C. (2025) · Maturitas · doi:10.1016/j.maturitas.2025.108214 · Cited by 1
Turner syndrome: the promise of fertility via stem cell technology
Szeliga, A., Malcher, A., Niwczyk, O., Olszewska, M., Kurpisz, M. K., Męczekalski, B., & Adashi, E. Y. (2025) · HORMONES · doi:10.1007/s42000-025-00647-1 · Cited by 1
Thyroid Dysfunction and Cardiovascular Abnormalities in a Young Patient with Turner Syndrome
Amin, M. R., Rana, S., Hossain, A., Mohammad, H., Chowdhury, M. J., & Kahhar, M. (1970) · Journal of Armed Forces Medical College Bangladesh · doi:10.3329/jafmc.v7i1.8628 · Cited by 1
Agency or disempowerment: Children with learning disorders in France
Vinel, V., & Александровна, К. В. (2019) · SALUTE E SOCIETÀ · doi:10.3280/ses2019-003010 · Cited by 1
Being a girl with a rare disease: an anthropological investigation on Turner Syndrome
Radkowska-Walkowicz, M. (2019) · SALUTE E SOCIETÀ · doi:10.3280/ses2019-003009 · Cited by 1
The Hormone of Growth and Hope. The Case of Turner Syndrome
Radkowska-Walkowicz, M. (2019) · Ethnologia Polona · doi:10.23858/ethp40.2019.002 · Cited by 1
Fertility Preservation for Turner Syndrome
Finlayson, C. A., Bernardi, L. A., & Habiby, R. L. (2020) · Springer eBooks · doi:10.1007/978-3-030-34150-3_4 · Cited by 1
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0009 · Cited by 1
Chromosome Instability Syndromes
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0021 · Cited by 1
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0011 · Cited by 1
Deriving and Using a Risk Figure
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0004 · Cited by 1
The Origins and Consequences of Chromosome Pathology
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0003 · Cited by 1
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0019 · Cited by 1
Preimplantation Genetic Diagnosis
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0026 · Cited by 1
Bondy, C. A. (2010) · Springer eBooks · doi:10.1007/978-1-4419-1436-1_19 · Cited by 1
Self-citationQualité de vie et aspects psychosociaux chez les jeunes femmes ayant un syndrome de Turner
Devernay, M., & Carel, J. (2009) · Springer eBooks · doi:10.1007/978-2-287-87855-8_15
Réflexions autour du suivi à la période de transition
Lorenzini, F. (2009) · Springer eBooks · doi:10.1007/978-2-287-87855-8_9
Gonadal dysgenesis: ovarian function and reproductive health in Turner syndrome
Saenger, P. H., & Rodriguez‐Buritica, D. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139003254.004
Klinisches Management des Ullrich-Turner-Syndroms
Schonhoff, P. (2011)
Percepción de estrés escolar y ritmo circadiano de cortisol en el Síndrome de Turner
López, M., Aguilar, M. J., & Zabaletta, V. (2014) · Temas em Psicologia · doi:10.9788/tp2014.2-20
45, XO karyotype in women with atypical Turner?s syndrome presentation
Venkatesan, R., Balaji, S., Suresh, K. R., Rajarajeswaran, J., Bl, K., Chandirasekar, R., Nedumaran, D., & Sasikala, K. (2012) · Biology and medicine · doi:10.4172/0974-8369.1000162
CRYOPRESERVATION OF FEMALE FERTILITY
Yu, J., & Huang, J. Y. J. (2010)
Quality of Life in Amenorrhea and Oligomenorrhea
To, W. W. K. (2009) · Springer eBooks · doi:10.1007/978-0-387-78665-0_113
Primary Ovarian Insufficiency (POI) and Mood Disorders
Bevilacqua, K. (2016) · Springer eBooks · doi:10.1007/978-3-319-22491-6_10
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0017
Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0014
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0015
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0008
Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
Backeljauw, P. F., & Gutmark‐Little, I. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_6
Transition Considerations for Turner Syndrome
Corathers, S. D., Gerstle, M., Casnellie, L., Pater, C. M., & Trotman, G. E. (2019) · Springer eBooks · doi:10.1007/978-3-030-05045-0_7
Kahlert, E. (2019) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-7332
Systematic Review of Short Stature and Growth Related Qualitative Researches
Kim, H., Leem, J., Yeong, R. M., Cheong, M. J., Jeon, C.-H., ji, H. Y., & Kim, H. (2019) · The Journal of Pediatrics of Korean Medicine · doi:10.7778/jpkm.2019.33.4.74
Turner Sendromunda Fertilite Durumu ve İnfertilite Hemşiresinin Rolleri
Öngen, M., & BAŞAR, F. (2020) · Bandırma Onyedi Eylül Üniversitesi Sağlık Bilimleri ve Araştırmaları Dergisi · doi:10.46413/boneyusbad.792458
Davenport, M. L., ROSS, J. L., & Backeljauw, P. F. (2013) · Humana Press eBooks · doi:10.1007/978-1-60761-395-4_7
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0010
Uniparental Disomy and Disorders of Imprinting
Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0022
Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0028
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0012
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0002
chromosome abnormalities detected at prenatal diagnosis
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0027
Chromosomal Disorders of Sex Development
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0020
Autosomal Reciprocal Translocations
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0005
Turner syndrome in childhood period – A case Report
Tuyishimire, B., Karangwa, O., Rutagarama, F., Ndatinya, A., Nsanzabaganwa, C., & Mutesa, L. (2022) · Rwanda medical journal · doi:10.4314/rmj.v79i2.8
Adult care of Turner syndrome women
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00164-3
Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
Gutmark‐Little, I., Muthuvel, G., & Backeljauw, P. F. (2024) · Springer eBooks · doi:10.1007/978-3-031-66296-6_6
Bartel, W. P., Accordino, R. E., Awidi, B., & Prager, L. M. (2024) · Springer eBooks · doi:10.1007/978-3-031-76269-7_11
Ciepiela, K. (2025) · Second language learning and teaching · doi:10.1007/978-3-031-86158-1_5
Bibliometric Trend Analysis: Turner Syndrome in Childhood
Prastiti, A. D., Fikri, A. I., Putri, D. B., Cahyaningrat, I. G. A. D., Wimbarti, S., & Khakim, Z. (2025) · Jurnal Psikologi Wijaya Putra (Psikowipa) · doi:10.38156/psikowipa.v6i1
Dowlut‐McElroy, T., Hyunh, V. O., Roth, L. W., Ross, M. E., Priebe, A., Maher, J. Y., & Gomez‐Lobo, V. (2025) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2025.09.002
Caring for Children with Turner Syndrome: A Supportive Needs AssessmentPreprint
Cannon, A. D., Hinkle, L., Holt, L., Prakash, S. K., & Hurst, A. (2025) · Research Square · doi:10.21203/rs.3.rs-7188786/v1
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0007
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0004
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0005
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0008
Cytogenetic Abbreviations and Nomenclature
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0272
Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0271
Determining 95 Percent Confidence Limits, and the Standard Error
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0273
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0006
Fertility preservation in patients with Turner syndrome: a SWOT analysis
Ferro, R., Vento, F. D., & Streuli, I. (2025) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2025.105438
An updated systematic review of fertility preservation options in individuals with Turner syndrome
Dennis, A., Barishansky, S. J., & Goldman, K. N. (2026) · F&S Reviews · doi:10.1016/j.xfnr.2026.100100
Ceran, A., Çetin, S. K., Şıklar, Z., Özsu, E., Berberoğlu, M., & Aycan, Z. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1771065
Karyotype–phenotype associations in turner syndrome: a multicenter retrospective cohort study
Watad, R., Jneibi, S. A., Remeithi, S. S. A., Beck, R., Hassani, N. A., & Deeb, A. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1830126
Prediction of decline in ovarian function in Turner syndrome
Shankar, R. K., & Dowlut‐McElroy, T. (2026) · Journal of the Endocrine Society · doi:10.1210/jendso/bvag171
Outcomes of IVF-ET in patients with mosaic Turner syndrome: a retrospective study
He, L., Xiang, Y., Wei, J., He, L., Qiu, Y., Luo, T., Wang, L., Wang, N., Li‐Ling, J., & Gong, Y. (2026) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-026-04035-5
Advances in Abnormal Growth and Development: From Mechanisms to Therapeutics
(2026) · Frontiers research topics · doi:10.3389/978-2-8325-8874-1
AlHefdhi, H. A., Aldeery, M., & Mahmood, S. E. (2026) · Healthcare · doi:10.3390/healthcare14213690
Avaliação das habilidades sociais na Sindrome de Turner
Suzigan, L. Z. C. (2008) · doi:10.47749/t/unicamp.2008.424934
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
- 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
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
