Characteristic clinical features include short stature and premature ovarian failure in a phenotypic female.
Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients.
Haplo-insufficiency for X- or Y-encoded pseudoautosomal genes largely responsible for the phenotype.
Intelligence is normal, with verbal skills generally greater than performance or visual-spatial skills.
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
- there are no known risk factors
1st investigations to order
Investigations to consider
- audiology testing
- bone age
- 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
all patients: at diagnosis
all patients: after establishment of cyclical bleeding
Patricia Y. Fechner, MD
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.
Gerard Conway, MD
University College London Hospitals
GC declares that he has no competing interests.
Peter Hindmarsh, MD
Developmental Endocrinology Research Unit
Institute of Child Health
PH declares that he has no competing interests.
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- Clinical practice guidelines for the care of girls and women with Turner syndrome
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