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Turner syndrome

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 9 Jun 2025
Last updated: 03 Jun 2025

Summary

Definition

History and exam

Key diagnostic factors

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

Other diagnostic factors

  • 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
Full details

Risk factors

  • there are no known risk factors
Full details

Diagnostic tests

1st tests to order

  • karyotype
Full details

Tests to consider

  • 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
Full details

Treatment algorithm

ACUTE

all patients: at diagnosis

ONGOING

all patients: after establishment of cyclical bleeding

Contributors

Authors

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

Disclosures

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

Disclosures

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.

References

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.

Key articles

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.Full text  Abstract

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

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.Full text  Abstract

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.Full text  Abstract

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

Reference articles

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

  • Differentials

    • Constitutional delay of growth and development
    • Noonan syndrome
    • 46,XX gonadal dysgenesis
    More Differentials

  • Guidelines

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