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Turner syndrome

  • 概述
  • 理论
  • 诊断
  • 治疗
  • 随访
  • 资源
最后审阅： 24 Sep 2025
最后更新： 03 Jun 2025

小结

定义

病史和体格检查

关键诊断因素

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

其他诊断因素

  • 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
完整详情

危险因素

  • there are no known risk factors
完整详情

诊断性检查

首要检查

  • karyotype
完整详情

需考虑的检查

  • 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
完整详情

治疗流程

急症处理

all patients: at diagnosis

持续性治疗

all patients: after establishment of cyclical bleeding

撰稿人

作者

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

利益声明

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.

鸣谢

Dr Patricia Y. Fechner would like to gratefully acknowledge Dr Carolyn A. Bondy, a previous contributor to this topic.

利益声明

CAB is an author of references cited in this topic.

同行评议者

Gerard Conway, MD

Consultant Endocrinologist

University College London Hospitals

London

UK

利益声明

GC declares that he has no competing interests.

Peter Hindmarsh, MD

Professor

Developmental Endocrinology Research Unit

Institute of Child Health

London

UK

利益声明

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

利益声明

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.

参考文献

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.

关键文献

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.全文  摘要

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

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.全文  摘要

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.全文  摘要

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

参考文献

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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