The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Standardized Multidisciplinary Evaluation Yields Significant Previously Undiagnosed Morbidity in Adult Women with Turner Syndrome
Open accessAbstract
CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective was to investigate the yield of an initial standardized multidisciplinary screening in adult TS patients. DESIGN AND SETTING: This was an observational study at a multidisciplinary care unit for adult women with TS. PARTICIPANTS: Participants were adult women with TS (n = 150). Mean age was 31.0 ± 10.4 yr, with 47% karyotype 45,X. INTERVENTIONS: All women were consulted by an endocrinologist, a gynecologist, a cardiologist, an otorhinolaryngologist, and when indicated, a psychologist. The screening included magnetic resonance imaging of the heart and aorta, echocardiography, electrocardiogram, dual-energy x-ray absorptiometry, renal ultrasound, audiogram, and laboratory investigations according to international expert recommendations. MAIN OUTCOME MEASURES: New diagnoses and prevalence of TS-associated morbidity were evaluated. RESULTS: Thirty percent of patients currently lacked medical follow-up, and 15% lacked estrogen replacement therapy in the recent last years. The following disorders were newly diagnosed: bicuspid aortic valve (n = 13), coarctation of the aorta (n = 9), elongation of the transverse aortic arch (n = 27), dilation of the aorta (n = 34), osteoporosis (n = 8), osteopenia (n = 56), renal abnormalities (n = 7), subclinical hypothyroidism (n = 33), celiac disease (n = 3), glucose intolerance (n = 12), dyslipidemia (n = 52), hypertension (n = 39), and hearing loss warranting a hearing aid (n = 8). Psychological consultation was needed in 23 cases. CONCLUSIONS: Standardized multidisciplinary evaluation of adult women with TS as advocated by expert opinion is effective and identifies significant morbidity. Girls with TS benefit from a careful transition to ongoing adult medical care.
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“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
In the citing paper
“Additionally, there is a paucity of specialized adult providers with experience caring for individuals with TS, and quality of care and detection of comorbidities improves with adequate adult care.334,424,555,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
In the citing paper
“Consistent screening and detection of comorbidities is inadequate in this population, and there is a high rate of inconsistent medication administration.334,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
In the citing paper
“Consistent screening and detection of comorbidities is inadequate in this population, and there is a high rate of inconsistent medication administration.334,556”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [556]
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Lang, R. M., Bierig, M., Devereux, R. B., Flachskampf, F. A., Foster, E., Pellikka, P. A., Picard, M. H., Roman, M. J., Seward, J., Shanewise, J. S., et al. (2005) · Journal of the American Society of Echocardiography · doi:10.1016/j.echo.2005.10.005 · Cited by 11,318
Standards of Medical Care in Diabetes
Power, D. V. (2006) · Diabetes Care · doi:10.2337/diacare.29.02.06.dc05-1593 · Cited by 8,676
Sahn, D. J., DeMaria, A. N., KISSLO, J. A., & Weyman, A. E. (1978) · Circulation · doi:10.1161/01.cir.58.6.1072 · Cited by 7,430
Standards of medical care in diabetes 2010
American Diabetes Association (2010) · Diabetes Care · doi:10.2337/dc10-s011 · Cited by 3,470
Basevi, V., Mario, S. D., Morciano, C., Nonino, F., & Magrini, N. (2011) · Diabetes Care · doi:10.2337/dc11-0174 · Cited by 3,058
Chlebowski, R. T., Hendrix, S. L., Langer, R. D., Stefanick, M. L., Gass, M. L. S., Lane, D. S., Rodabough, R. J., Gilligan, M. A., Cyr, M. G., Thomson, C. A., et al. (2003) · JAMA · doi:10.1001/jama.289.24.3243 · Cited by 1,871
Nielsen, J., & Wohlert, M. (1991) · Human Genetics · doi:10.1007/bf01213097 · Cited by 1,193
Two-dimensional echocardiographic aortic root dimensions in normal children and adults
Roman, M. J., Devereux, R. B., Kramer-Fox, R., & OʼLoughlin, J. E. (1989) · The American Journal of Cardiology · doi:10.1016/0002-9149(89)90430-x · Cited by 1,096
Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005
Recommendations for the Diagnosis and Management of Turner Syndrome
Saenger, P. H., Wikland, K. A., Conway, G. S., Davenport, M., Gravholt, C. H., Hintz, R. L., Hovatta, O., Hultcrantz, M., Landin‐Wilhelmsen, K., Lin, A. E., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.7.7683 · Cited by 419
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Late Sequelae in the Adult Patient with Congenital Heart Disease
Kay, J. D., & Khanna, A. D. (2013) · Springer eBooks · doi:10.1007/978-1-4471-4619-3_188
Sifuentes, E. G., Fuchs‐Tarlovsky, V., Nieto, G. N. G., Alvarez-Altamirano, K., Gallegos, L. L. R., Hernandez, L., Benhumea, L. P., Saro, M. M., Fonseca-Sánchez, M. A., & García, G. E. Q. (2016) · Revista Médica Del Hospital General De México · doi:10.1016/j.hgmx.2016.09.003
“Possibly as a direct consequence of this lower REE and free fat mass distribution, obesity is frequent in TS patients, accompanied by early metabolic co-morbidities.(19,20) The REE modifications in TS could be explained by the lack of oestrogen’s and poor compliance of the hormonal replacement therapy affecting eating…”
BackgroundHo, J. R. (2016) · Springer eBooks · doi:10.1007/978-3-319-17002-2_88-1
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
Premature Ovarian Insufficiency
Podfigurna, A., Grymowicz, M., Szeliga, A., Rudnicka, E., Maciejewska-Jeske, M., Smolarczyk, R., & Męczekalski, B. (2019) · Springer eBooks · doi:10.1007/978-3-030-13936-0_3
Kahlert, E. (2019) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-7332
Turner syndrome in children in Ukraine: analysis of incidence. Age of diagnosis and genetic variants
Zelinska, N., Шевченко, І. Ю., Вікторівна, Г. Є., & Погадаєва, Н. Л. (2015) · Clinical endocrinology and endocrine surgery · doi:10.24026/1818-1384.1(49).2015.74520
Care of Girls with Turner Syndrome: Beyond Growth and Hormones
Nip, A. S. Y., & King, D. (2020) · Springer eBooks · doi:10.1007/978-3-030-34150-3_9
Backeljauw, P. F., & Corathers, S. D. (2020) · Springer eBooks · doi:10.1007/978-3-030-34150-3_16
Ankylosing spondylitis complicating Turner syndrome
Chen, F., Zhang, X., & Jiao, Y. (2020) · Medicine · doi:10.1097/md.0000000000021636
“However, these patients must be identified because TS patients are at higher risk of many clinical problems such as cardiovascular disease and metabolic disorders,([23,24]) which require follow-up and management.”
BackgroundHo, J. R. (2017) · Springer eBooks · doi:10.1007/978-3-319-17798-4_88
Lin, A. E., & Crenshaw, M. (2020) · Wiley eBooks · doi:10.1002/9781119432692.ch60
Refresher: „ESHRE guidelines“ zum Management der POI
Blickenstorfer, K. (2023) · Journal für Gynäkologische Endokrinologie/Schweiz · doi:10.1007/s41975-023-00282-2
Pais‐Cunha, I., Pereira, M. B., Leite-Almeida, A. L., Neto, B. P., Ferreira, S., Silva, R. S., & Castro-Correia, C. (2024) · Cureus · doi:10.7759/cureus.61439
Sandler, C. N., & SHANK, K. R. (2024) · Springer eBooks · doi:10.1007/978-3-031-54281-7_40
Singh, P., & Yadav, S. (2024) · Springer eBooks · doi:10.1007/978-981-97-1639-5_18
Adult care of Turner syndrome women
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00164-3
Munari, S., Vantin, S., Zoller, T., Antoniazzi, F., Pietrobelli, A., PIACENTINI, G. L., Castello, R., & Gaudino, R. (2026) · Research Square · doi:10.21203/rs.3.rs-8261248/v1
Widmann, K. H., Hager, M., Windischbauer, L.-M., Krysiak, R. G., & Ott, J. (2026) · Gynecological Endocrinology · doi:10.1080/09513590.2026.2692740
New genomic understanding and challenges in clinical care of Turner syndrome
Gravholt, C. H., Balle, C. M., Johannsen, E. B., Valsted, L. B., Hartogsohn, E. A. R., Bedei, I. A., Just, J., Backeljauw, P. F., & Stochholm, K. (2026) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(26)00192-0
Metadata
- Authors
- Freriks, K., Timmermans, J., Beerendonk, C. C. M., Verhaak, C. M., Netea-Maier, R. T., Otten, B. J., Braat, D. D. M., Smeets, D. F. C. M., Kunst, D. H. P. M., Hermus, A. R. M. M., & Timmers, H. J. L. M.
- Affiliations
- Radboud University Nijmegen (NL)
- Corresponding author
- Timmers, Henri J. L. M.
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2011-09-01
- Volume
- 96
- Issue
- 9
- Pages
- E1517-E1526
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2170664803
- Cited by
- 120
- References
- 48
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 8 · 2023: 5 · 2022: 6 · 2021: 7 · 2020: 10 · 2019: 18 · 2018: 18 · 2017: 11 · 2016: 10 · 2015: 3 · 2014: 4 · 2013: 5 · 2012: 9
- FWCI
- 3.79
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Pfizer
- Radboud Universiteit
- Novo Nordisk
- Radboud Universitair Medisch Centrum
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- Turner syndrome, adult women, bicuspid aortic valve, coarctation of the aorta, aortic dilatation, osteoporosis, subclinical hypothyroidism, celiac disease, impaired glucose tolerance, dyslipidemia, hypertension, hearing loss, estrogen replacement therapy, transition to adult care
- MeSH terms
- Adult, Aorta, Aortic Coarctation, Female, Follow-Up Studies, Heart Defects, Congenital, Humans, Hypertension, Osteoporosis, Turner Syndrome, Ultrasonography, Hearing Loss, Dyslipidemias
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