Recognition and management of adults with Turner syndrome: from the transition of adolescence through the senior years
Open accessAbstract
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome from adolescents in transition, through adulthood, and into another transition as older women. It can be viewed as an interpretation of recent international guidelines, complementary to those recommendations, and in some instances, an update. An attempt was made to provide an international perspective. Finally, the women and families who live with Turner syndrome and who inspired several sections, are themselves part of the broad readership that may benefit from this review.
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Hypertension is three to four times more prevalent in individuals with TS than in matched controls and does not vary significantly by karyotype.
“Hypertension is three to four times more prevalent in individuals with TS than in matched controls and does not vary significantly by karyotype.450-452”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [451]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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Self-citationThe changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149 · see citing works
Self-citationWhat microRNAs could tell us about the human X chromosome
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Self-citationA Review of Recent Developments in Turner Syndrome Research
Huang, A. C., Olson, S. B., & Maslen, C. L. (2021) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd8110138 · Cited by 75 · see citing works
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Cancer occurrence in Turner syndrome and the effect of sex hormone substitution therapy
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Self-citationThe lncRNAs at X Chromosome Inactivation Center: Not Just a Matter of Sex Dosage Compensation
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Lin, A. E., Santoro, S. L., High, F. A., Goldenberg, P. C., & Gutmark‐Little, I. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31760 · Cited by 32 · see citing works
Self-citationMartin‐Giacalone, B. A., Lin, A. E., Rasmussen, S. A., Kirby, R. S., Nestoridi, E., Liberman, R. F., Agopian, A. J., Carey, J. C., Cragan, J. D., Forestieri, N., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63181 · Cited by 28 · see citing works
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Ghazi, L., Annabathula, R. V., Bello, N. A., Zhou, L., Stacey, R. B., & Upadhya, B. (2022) · Current Hypertension Reports · doi:10.1007/s11906-022-01230-4 · Cited by 32 · see citing works
Prevalence of Celiac Disease in Patients With Turner Syndrome: Systematic Review and Meta-Analysis
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Silvén, H., Savukoski, S. M., Pesonen, P., Pukkala, ., Ojaniemi, M., Gissler, M., Suvanto, E. T. J., & Niinimäki, M. J. (2023) · Human Reproduction · doi:10.1093/humrep/dead066 · Cited by 18 · see citing works
Prenatal Diagnosis of Sex Chromosome Abnormalities
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A prospective study of lipids in adult women with Turner syndrome
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Self-citationLess ready for adulthood?—Turner syndrome has an impact on transition readiness
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Self-citationIs Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?
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Turner syndrome-omphalocele association: incidence, karyotype, phenotype and fetal outcome
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Dermatological concerns for women and girls with turner syndrome
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Aversa, T., SANCTIS, L. D., Faienza, M. F., Gambineri, A., Balducci, A., D'Aprile, R., Somma, C. D., Giavoli, C., Grossi, A., Meriggiola, M. C., et al. (2024) · Journal of Endocrinological Investigation · doi:10.1007/s40618-024-02315-4 · Cited by 6 · see citing works
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Diddhenipothage, S. A. D. M., Beck, K. J., Amiyangoda, C. G. K., Bryce, J., Cima, L., Groote, K. D., Deyanova, Y., Globa, E., Herrmann, G., Juul, A., et al. (2025) · Endocrine Connections · doi:10.1530/ec-24-0477 · Cited by 5 · see citing works
Kallali, W., Messiaen, C., Saïdi, R., Lessim, S., Viaud, M., Dulon, J., Nedelcu, M., Samara‐Boustani, D., Houang, M., Donadille, B., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02099-3 · Cited by 4 · see citing works
Vakharia, J. D., & Stanley, T. L. (2022) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000785 · Cited by 3 · see citing works
Cicione, M. E., Wong, A. W., Aragon, E., Hague, C. D., Cirino, A. L., Scimone, E. R., Gochyyev, P., & Lin, A. E. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32128 · Cited by 3 · see citing works
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Self-citationCardiovascular Health in Turner Syndrome
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Mansoorshahi, S., Scurlock, C., Prakash, S. K., & Prakash, S. K. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03120-1 · Cited by 2 · see citing works
Self-citationTransition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success
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Prenatal Diagnosis of Sex Chromosome Abnormalities
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Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience
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Hormone replacement in disorders of sex development, and long-term effects
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Turner Syndrome and the Risks of Clinical Depression in Adolescence
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Levitsky, L. L. (2020) · Springer eBooks · doi:10.1007/978-3-030-52215-5_47 · Cited by 1 · see citing works
Self-citationAn interprofessional clinic for adults with Turner syndrome: the patient perspective
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Case 27-2023: A 53-Year-Old Woman with Celiac Disease and Upper Gastrointestinal Bleeding
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Self-citationLymphedema Awareness and Experience in the Turner Syndrome Community
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Bartel, W. P., Accordino, R. E., Awidi, B., & Prager, L. M. (2024) · Springer eBooks · doi:10.1007/978-3-031-76269-7_11
Self-citationA Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
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Neurodevelopmental Profile of a Child With X-linked MSL3 Syndrome
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Self-citationCaring 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
Self-citationMansoorshahi, S., Scurlock, C., Research Registry, S. A. B. O. T. T. S. S. O. T. U. S., & Prakash, S. K. (2024) · Figshare · doi:10.6084/m9.figshare.25389941
Self-citationMansoorshahi, S., Scurlock, C., Research Registry, S. A. B. O. T. T. S. S. O. T. U. S., & Prakash, S. K. (2024) · Figshare · doi:10.6084/m9.figshare.25389449
Self-citationA case report on atypical chromosomal variations in Turner syndrome
Aliazami, F., Farhud, D. D., Zarif-Yeganeh, M., Shahmoradi, S. S., Tajik, B., & Jaryani, S. (2026) · Molecular Cytogenetics · doi:10.1186/s13039-025-00745-0
Goto‐Hirano, K., Kitamura, Y., Arai, Y., Nishioka, M., Harada, H., Shimada, S., Abe, A., Shimizu, E., & Arai, M. (2026) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2025.11.022
- Authors
- Lin, A. E., Prakash, S. K., Andersen, N. H., Viuff, M. H., Levitsky, L. L., Rivera‐Davila, M., Crenshaw, M. L., Hansen, L., Colvin, M. K., Hayes, F. J., Lilly, E., Snyder, E. A., Nader‐Eftekhari, S., Aldrich, M. B., Bhatt, A. B., Prager, L. M., Arenivas, A., Skakkebaek, A., Steeves, M. A., Kreher, J. B., & Gravholt, C. H.
- Affiliations
- Massachusetts General Hospital (US)
- The University of Texas Health Science Center at Houston (US)
- Aalborg University Hospital (DK)
- Aarhus University Hospital (DK)
- Division of Pediatric Endocrinology, Department of Pediatrics, McGovern Medical School The University of Texas Health Science Center at Houston Houston Texas
- Johns Hopkins All Children's Hospital (US)
- Memorial Hermann Institute for Rehabilitation and Research Foundation (US)
- Corresponding author
- Lin, Angela E.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2019-08-16
- Volume
- 179
- Issue
- 10
- Pages
- 1987-2033
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2967679448
- Cited by
- 50
- References
- 374
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 9 · 2023: 8 · 2022: 10 · 2021: 7 · 2020: 4 · 2019: 2
- FWCI
- 3.47
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- VBN Forskningsportal (Aalborg Universitet) (submittedVersion)
- Funders
- Augustinus Fonden
- Hjerteforeningen
- Lundbeckfonden
- NIH Blueprint for Neuroscience Research (NIH R01CA201487)
- Novo Nordisk Fonden (NNF13OC0003234, NNF15OC0016474)
- Toyota Foundation
- 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, adult care, transition from adolescence to adulthood, older women, primary care, clinical guidelines, social services, reproductive medicine, cardiovascular management, endocrinology
- MeSH terms
- Adolescent, Adult, Aged, Child, Humans, Mental Health, Middle Aged, Phenotype, Turner Syndrome, Chromosomes, Human, Y, Young Adult, Karyotype
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