Turner's syndrome

Last reviewed: 29 Aug 2022
Last updated: 16 Mar 2021

Summary

Definition

History and exam

Key diagnostic factors

  • poor growth
  • short stature
  • delayed/absent pubertal development
  • primary amenorrhoea
  • congenital heart defects
  • skeletal abnormalities
  • webbed neck
  • peripheral lymphoedema
More key diagnostic factors

Other diagnostic factors

  • dysmorphic features
  • secondary amenorrhoea
  • multiple melanocytic naevi
  • recurrent/severe otitis media
  • systolic ejection murmur and/or click
  • poor social skills
  • upper extremity hypertension
  • dystrophic and/or hyper-convex nails
Other diagnostic factors

Risk factors

  • there are no known risk factors
More risk factors

Diagnostic investigations

1st investigations to order

  • karyotype
More 1st investigations to order

Investigations to consider

  • audiology testing
  • 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
  • fasting glucose and HbA1c
  • serum lipids
  • IgA level and tissue transglutaminase IgA
More investigations to consider

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 Co-Director Turner Syndrome Clinic

Seattle Children’s Hospital

Professor of Pediatrics

University of Washington

Seattle

WA

Disclosures

PYF is a member of the advisory board and a consultant for Neurocrine BioSciences. She has also conducted contract research from Neurocrine BioSciences, Pfizer, and Ascenda. 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.

  • Turner's syndrome images
  • Differentials

    • Constitutional delay of growth and development
    • Noonan's 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
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer