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Turner syndrome

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  • Visão geral
  • Teoria
  • Diagnóstico
  • Tratamento
  • ACOMPANHAMENTO
  • Recursos
Última revisão: 2 Dec 2025
Última atualização: 03 Jun 2025

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • poor growth
  • short stature
  • delayed/absent pubertal development
  • primary amenorrhea
  • congenital heart defects
  • skeletal abnormalities
  • webbed neck
  • peripheral lymphedema
Detalhes completos

Outros fatores diagnósticos

  • dysmorphic features
  • secondary amenorrhea
  • multiple melanocytic nevi
  • recurrent/severe otitis media
  • systolic ejection murmur and/or click
  • poor social skills
  • eye abnormalities
  • upper extremity hypertension
  • dystrophic and/or hyperconvex nails
Detalhes completos

Fatores de risco

  • there are no known risk factors
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • karyotype
Detalhes completos

Investigações a serem consideradas

  • audiology testing
  • ophthalmological examination
  • bone age
  • echocardiogram
  • cardiac MRI
  • serum follicle-stimulating hormone and anti-Müllerian hormone
  • skeletal survey
  • pelvic ultrasound
  • renal ultrasound
  • thyroid function tests
  • antithyroid antibodies
  • LFTs/gamma glutamyl transferase/alkaline phosphatase
  • fasting glucose and HbA1c
  • serum lipids
  • IgA level and tissue transglutaminase IgA
  • vitamin D levels
Detalhes completos

Algoritmo de tratamento

AGUDA

all patients: at diagnosis

CONTÍNUA

all patients: after establishment of cyclical bleeding

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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As afiliações e declarações dos pareceristas referem--se ao momento da revisão.

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; International Turner Syndrome Consensus Group. 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;177: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.
  • Turner syndrome images

  • Diagnósticos diferenciais

    • Constitutional delay of growth and development
    • Noonan syndrome
    • 46,XX gonadal dysgenesis
    Mais Diagnósticos diferenciais

  • Guidelines

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