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Síndrome de Turner

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  • Visão geral
  • Teoria
  • Diagnóstico
  • Tratamento
  • ACOMPANHAMENTO
  • Recursos
Última revisão das evidências: 12 Mar 2026
Última atualização do tópico: 03 Jun 2025

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
Detalhes completos

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
Detalhes completos

Fatores de risco

  • não há fatores de risco conhecidos
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • cariótipo
Detalhes completos

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
Detalhes completos

Algoritmo de tratamento

AGUDA

todos os pacientes: no diagnóstico

CONTÍNUA

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

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

Раскрытие информации

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

Раскрытие информации

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.

Список литературы

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Основные статьи

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.Полный текст  Аннотация

Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. Аннотация

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.Полный текст  Аннотация

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.Полный текст  Аннотация

Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.Полный текст  Аннотация

Статьи, указанные как источники

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