Last reviewed: November 2017
Last updated: November  2017

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
  • 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 FSH and anti-MĂĽllerian 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
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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 VIEW ALL

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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