Last reviewed: February 2020
Last updated: January
2018
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 FSH and anti-Müllerian hormone (AMH)
- skeletal survey
- pelvic ultrasound
- renal ultrasound
- TFTs
- antithyroid antibodies
- LFTs/gamma GT
- fasting glucose and HbA1c
- serum lipids
- IgA level and tissue transglutaminase IgA
Treatment algorithm
Contributors
Authors
Medical Director
Disorders of Sex Development Program
Seattle Children’s Hospital
Associate Professor of Pediatrics
University of Washington
Seattle
WA
Disclosures
PYF is an author of a reference cited in this monograph.
Dr Patricia Y. Fechner would like to gratefully acknowledge Dr Carolyn A. Bondy, a previous contributor to this monograph. CAB is an author of a number of references cited in this monograph.
Peer reviewers
Consultant Endocrinologist
University College London Hospitals
London
UK
Disclosures
GC declares that he has no competing interests.
Professor
Developmental Endocrinology Research Unit
Institute of Child Health
London
UK
Disclosures
PH declares that he has no competing interests.
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