Cited by 1,005Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersImmunodeficiency and Autoimmune Disorders

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Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group

Bondy, Carolyn A.·2007·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2006-1374

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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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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
DOI: 10.1210/jc.2006-1374
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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Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group

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