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
Other diagnostic factors
- dysmorphic features
- secondary amenorrhea
- multiple melanocytic nevi
- recurrent/severe otitis media
- systolic ejection murmur and/or click
- poor social skills
- upper extremity hypertension
- dystrophic and/or hyperconvex nails
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
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.
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