Summary
Definition
History and exam
Key diagnostic factors
- baixo crescimento
- baixa estatura
- desenvolvimento puberal tardio/ausente
- amenorreia primária
- defeitos cardíacos congênitos
- anormalidades esqueléticas
- pescoço alado
- linfedema periférico
Other diagnostic factors
- características dismórficas
- amenorreia secundária
- nevos melanocíticos múltiplos
- otite média recorrente/grave
- sopro e/ou clique sistólico de ejeção
- habilidades sociais deficientes
- anomalias oculares
- hipertensão em membros superiores
- unhas distróficas e/ou hiperconvexas
Risk factors
- não há fatores de risco conhecidos
Diagnostic investigations
1st investigations to order
- cariótipo
Investigations to consider
- exame de audiologia
- exame oftalmológico
- idade óssea
- ecocardiograma
- ressonância nuclear magnética (RNM) cardíaca
- Hormônio folículo-estimulante e hormônio antimülleriano séricos
- radiografia do esqueleto
- ultrassonografia pélvica
- ultrassonografia renal
- testes da função tireoidiana
- anticorpos antitireoide
- TFHs/gama-glutamiltransferase/fosfatase alcalina
- glicemia de jejum e hemoglobina glicada (HbA1c)
- lipídios séricos
- Nível de imunoglobulina A (IgA) e IgA antitransglutaminase tecidual
- níveis de vitamina D
Treatment algorithm
todos os pacientes: no diagnóstico
todos os pacientes: após o estabelecimento de sangramento cíclico
Contributors
Authors
Patricia Y. Fechner, MD
Medical Director
Differences of Sex Development Program
Medical Director Congenital Adrenal Hyperplasia (CAH) Center of Excellence
Medical Co-Director Turner Syndrome Clinic
Seattle Children’s Hospital
Professor of Pediatrics
University of Washington
Seattle
WA
Disclosures
PYF is currently considering research using growth hormone in Turner syndrome sponsored by industry but no contract has been signed. She has been invited to participate in the 2023 updated Guidelines for Turner Syndrome in June 2023. She has also conducted contract research from Neurocrine BioSciences, Pfizer, Spruce Biosciences, and Ascendis Pharma. PYF has stock in Abbott Laboratories and AbbVie. She declares that these activities do not relate to the topic. PYF participated in Meet the Professor for the Endocrine Society 2019 Annual Meeting and is an author of references cited in this topic.
Acknowledgements
Dr Patricia Y. Fechner would like to gratefully acknowledge Dr Carolyn A. Bondy, a previous contributor to this topic.
Disclosures
CAB is an author of references cited in this topic.
Peer reviewers
Gerard Conway, MD
Consultant Endocrinologist
University College London Hospitals
London
UK
Disclosures
GC declares that he has no competing interests.
Peter Hindmarsh, MD
Professor
Developmental Endocrinology Research Unit
Institute of Child Health
London
UK
Disclosures
PH declares that he has no competing interests.
Vaneeta Bamba, MD
Associate Professor of Pediatrics
Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania
Philadelphia
PA
Disclosures
VB declares that in Nov 2020, she was part of a Genetic Short Stature Advisory Board sponsored by NovoNordisk. VB is a member of the Turner Syndrome Society Scientific Advisory Board- this is not compensated. VB has no known upcoming financial interests or relationships.
References
Key articles
Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1-G70.Full text Abstract
Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. Abstract
Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.Full text Abstract
Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005;90:3360-3366.Full text Abstract
Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Retardo constitucional do crescimento e desenvolvimento
- Síndrome de Noonan
- Disgenesia gonadal 46,XX
More DifferentialsGuidelines
- Cardiovascular health in Turner syndrome
- Clinical practice guidelines for the care of girls and women with Turner syndrome
More Guidelines
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