Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

Freriks, Kim; Timmermans, Janneke; Beerendonk, Catharina C. M.; Verhaak, Chris M.; Netea-Maier, Romana T.; Otten, Barto J.; Braat, Didi D. M.; Smeets, Dominique F. C. M.; Kunst, Dirk H. P. M.; Hermus, Ad R. M. M.; Timmers, Henri J. L. M.

doi:10.1210/jc.2011-0346

Cited by 120Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersConnective tissue disorders research

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

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Freriks, Kim, Timmermans, Janneke, Beerendonk, Catharina C. M., Verhaak, Chris M., Netea-Maier, Romana T., Otten, Barto J., Braat, Didi D. M., Smeets, Dominique F. C. M. +3 more·2011·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2011-0346

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Abstract

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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Quality of care and detection of comorbidities improves with adequate adult care.
“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]
There is a paucity of specialized adult providers with experience caring for individuals with TS.
“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]
There is a high rate of inconsistent medication administration in adults with TS.
“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]
Consistent screening and detection of comorbidities is inadequate in adults with TS.
“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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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: Beerendonk, Catharina C. M.
Verhaak, Chris M.
Netea-Maier, Romana T.
Smeets, Dominique F. C. M.
Timmers, Henri J. L. M.
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
DOI: 10.1210/jc.2011-0346
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
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

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