Last reviewed: 13 Apr 2021
Last updated: 16 Mar 2021



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

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

Risk factors

  • there are no known risk factors

Diagnostic investigations

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

Treatment algorithm


Medical Director

Differences of Sex Development Program

Medical Co-Director Turner Syndrome Clinic

Seattle Children’s Hospital

Professor of Pediatrics

University of Washington




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. 

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


CAB is an author of references cited in this topic.

Peer reviewersVIEW ALL

Consultant Endocrinologist

University College London Hospitals




GC declares that he has no competing interests.


Developmental Endocrinology Research Unit

Institute of Child Health




PH declares that he has no competing interests.

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