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Síndrome de Turner

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  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 29 Sep 2025
Last updated: 03 Jun 2025

Summary

Definition

História e exame físico

Principais fatores diagnósticos

  • crecimiento deficiente
  • estatura baja
  • desarrollo puberal retrasado/ausente
  • amenorrea primaria
  • defectos cardíacos congénitos
  • alteraciones esqueléticas
  • cuello alado
  • linfedema periférico
Detalhes completos

Outros fatores diagnósticos

  • rasgos dismórficos
  • amenorrea secundaria
  • múltiples nevos melanocíticos
  • otitis media recurrente/grave
  • chasquido o soplo sistólico eyectivo
  • habilidades sociales deficientes
  • alteraciones oculares
  • hipertensión en extremidades superiores
  • uñas hiperconvexas o distróficas
Detalhes completos

Fatores de risco

  • no existen factores de riesgo conocidos
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • cariotipo
Detalhes completos

Investigações a serem consideradas

  • pruebas audiológicas
  • examen oftalmológico
  • edad ósea
  • ecocardiograma
  • imagen por resonancia magnética cardíaca
  • hormona foliculoestimulante sérica y hormona antimülleriana
  • examen del esqueleto
  • ultrasonido pélvico
  • ultrasonido renal
  • pruebas de función tiroidea
  • anticuerpos antitiroideos
  • LFT/gamma glutamil transferasa/fosfatasa alcalina
  • glucosa en ayunas y HbA1c
  • lípidos séricos
  • nivel de IgA e IgA transglutaminasa tisular
  • niveles de la vitamina D
Detalhes completos

Algoritmo de tratamento

AGUDA

todas las pacientes: al momento del diagnóstico

CONTÍNUA

todas las pacientes: tras el establecimiento de sangrado 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.

Créditos aos pareceristas

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Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

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.
  • Síndrome de Turner images

  • Diagnósticos diferenciais

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    • Síndrome de Noonan
    • Disgenesia gonadal 46,XX
    Mais Diagnósticos diferenciais

  • Diretrizes

    • Cardiovascular health in Turner syndrome
    • Clinical practice guidelines for the care of girls and women with Turner syndrome
    Mais Diretrizes
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