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Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group
Abstract
OBJECTIVES: The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). PARTICIPANTS: The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. EVIDENCE: The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. CONSENSUS: The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus. CONCLUSIONS: We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function throughout the lifespan. We suggest that adults with TS be monitored for aortic enlargement, hypertension, diabetes, and dyslipidemia.
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“Previous guidelines have already addressed this, but numerous important advances have been noted since their publication.1-3”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [3]
In the citing paper
“CHD occurs in approximately half of individuals with TS, including BAV, aortic coarctation, and an arteriopathy that can lead to rare but often fatal aortic dissections.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [3]
In the citing paper
“Depending on the age and the imaging technique used, the prevalence of CHD in TS ranges from 40%-60%, most commonly left-sided obstructive lesions such as BAV and coarctation (Table 11).3,356,385-388”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [3]
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on behalf of the dsd-LIFE group, Röhle, R., Gehrmann, K., Szarras‐Czapnik, M., der Grinten, H. L. C., Pienkowski, C., Bouvattier, C. M., Cohen‐Kettenis, P. T., Nordenström, A., Thyen, U., et al. (2017) · BMC Endocrine Disorders · doi:10.1186/s12902-017-0198-y · Cited by 70
Fertility issues and pregnancy outcomes in Turner syndrome
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Arterial hypertension in Turner syndrome
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Puberty and its disorders in the female
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Medical treatment in gender dysphoric adolescents endorsed by SIAMS–SIE–SIEDP–ONIG
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Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome
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Self-citationAortic dimensions in Turner syndrome
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Cardiovascular abnormalities in Turner's syndrome: What prevention?
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Disorders of Sexual Development
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The patient with Turner syndrome: puberty and medical management concerns
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Impact of Growth Hormone Therapy on Quality of Life in Adults with Turner Syndrome
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Elevated liver enzymes in Turner syndrome during a 5‐year follow‐up study
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Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?
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Sex hormone replacement therapy in Turner syndrome—impact on morbidity and mortality
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Metadata
- Authors
- Bondy, C. A.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Bondy, Carolyn A.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2007-01
- Volume
- 92
- Issue
- 1
- Pages
- 10-25
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2166383227
- Cited by
- 1,005
- References
- 175
- Citations by year
- 2026: 18 · 2025: 22 · 2024: 39 · 2023: 39 · 2022: 37 · 2021: 37 · 2020: 78 · 2019: 57 · 2018: 65 · 2017: 69 · 2016: 61 · 2015: 81 · 2014: 57 · 2013: 61 · 2012: 49
- FWCI
- 21.28
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- Funders
- Eli Lilly and Company
- Pfizer
- Massachusetts General Hospital
- Aarhus Universitet
- Aarhus Universitetshospital
- University of Connecticut
- University of Washington
- Johns Hopkins University
- University of Texas Southwestern Medical Center
- Thomas Jefferson University
- University of South Florida
- Seattle Children's Research Institute
- Karolinska Institutet
- Novo Nordisk
- Sahlgrenska Universitetssjukhuset
- National Institutes of Health
- Genentech
- Uniformed Services University of the Health Sciences
- University of North Carolina at Chapel Hill
- National Heart, Lung, and Blood Institute
- National Institute of Mental Health
- National Institute of Child Health and Human Development
- NIH Clinical Center
- 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 › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, clinical management guidelines, cardiovascular evaluation, magnetic resonance angiography, delayed puberty, statural growth, attention deficit disorder, nonverbal learning disabilities, premature ovarian failure, estrogen therapy, bone health, auditory monitoring, thyroid function monitoring, aortic dilatation, hypertension, diabetes mellitus, dyslipidemia, quality of life
- MeSH terms
- Adult, Bone and Bones, Cardiovascular Diseases, Child, Cognition, Female, Fertility, Humans, Infant, Newborn, Liver Diseases, Prenatal Diagnosis, Puberty, Turner Syndrome, Estrogen Replacement Therapy, Neonatal Screening
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