Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- baixo crescimento
- baixa estatura
- desenvolvimento puberal tardio/ausente
- amenorreia primária
- defeitos cardíacos congênitos
- anormalidades esqueléticas
- pescoço alado
- linfedema periférico
Outros fatores diagnósticos
- 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
Fatores de risco
- não há fatores de risco conhecidos
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- cariótipo
Investigações a serem consideradas
- 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
Algoritmo de tratamento
todos os pacientes: no diagnóstico
todos os pacientes: após o estabelecimento de sangramento cíclico
Colaboradores
Autores
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
Declarações
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.
Agradecimentos
Dr Patricia Y. Fechner would like to gratefully acknowledge Dr Carolyn A. Bondy, a previous contributor to this topic.
Declarações
CAB is an author of references cited in this topic.
Revisores
Gerard Conway, MD
Consultant Endocrinologist
University College London Hospitals
London
UK
Declarações
GC declares that he has no competing interests.
Peter Hindmarsh, MD
Professor
Developmental Endocrinology Research Unit
Institute of Child Health
London
UK
Declarações
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
Declarações
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
Referências
Principais artigos
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.Texto completo Resumo
Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.Texto completo Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Retardo constitucional do crescimento e desenvolvimento
- Síndrome de Noonan
- Disgenesia gonadal 46,XX
Mais Diagnósticos diferenciaisDiretrizes
- Cardiovascular health in Turner syndrome
- Clinical practice guidelines for the care of girls and women with Turner syndrome
Mais Diretrizes
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