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
Other diagnostic factors
- dysmorphic features
- secondary amenorrhoea
- multiple melanocytic naevi
- recurrent/severe otitis media
- systolic ejection murmur and/or click
- poor social skills
- eye abnormalities
- upper extremity hypertension
- dystrophic and/or hyper-convex nails
Risk factors
- there are no known risk factors
Diagnostic investigations
1st investigations to order
- karyotype
Investigations 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
Treatment algorithm
all patients: at diagnosis
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.
Differentials
- Constitutional delay of growth and development
- Noonan's syndrome
- 46,XX gonadal dysgenesis
More DifferentialsGuidelines
- Cardiovascular health in Turner syndrome
- Clinical practice guidelines for the care of girls and women with Turner syndrome
More Guidelines
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