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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ESHRE Guideline: management of women with premature ovarian insufficiency
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“…et al., 1996; Castaneda et al., 1997; Bakalov et al., 2003; Han et al., 2008; Michala et al., 2008; Bachelot et al., 2009; Popat et al., 2009; Freriks et al., 2011) B Reduced BMD is very likely to indicate that POI is associated with an increased risk of fracture later in life, although this…”
BackgroundInfluentialGravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101
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Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association
Silberbach, M., Roos‐Hesselink, J. W., Andersen, N. H., Braverman, A. C., Brown, N. M., Collins, R. T., Backer, J. F. A. D., Eagle, K. A., Hiratzka, L. F., Johnson, W. H., et al. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/hcg.0000000000000048 · Cited by 250
“127 There is not a specific dyslipidemia associated with TS, 128 but many patients develop an unhealthy lipid profile as a result of obesity, diabetes mellitus, or poor estrogen substitu-tion.”
Background
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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