Genetics: Chromosomal Disorders /

Turner Syndrome

01 In Brief

Turner Syndrome occurs in 1:2000 girls born in Australia each year. It is due to a chromosomal abnormality where the girls are missing or have a rearrangement of one of their X chromosomes (45XO). The girls have characteristic physical features and are of normal intelligence. Diagnosis occurs either following prenatal screening or in childhood with short stature, heart problems or delayed puberty. Health Surveillance and management is complex. There is a comprehensive amount of information available on line including a number of fact sheets and recently published clinical practice guidelines and a useful Health Checklist. Fact sheets include information on pubertal induction talking to you daughter about her diagnosis, foot care and spatial learning problems.

 

02 What Others Say

Top Choice

  • Centre for Genetics Education/NSW health; Comprehensive fact sheets covers a range of issues including characteristics, chromosomes, recurrence risk, treatment and surveillance prenatal diagnosis

Turner Syndrome-XO Syndrome

Next Best

  • Mayo Clinic fact sheet

Turner Syndrome

03 I Want To Know More

  • Parent Support Group

Turner Syndrome Association of Australia

  • Turner Syndrome Society of United Staes has extensive  resources for families and health professionals 

Turner Syndrome of United States

  • Turner Syndrome Support Society United kingdom has a  collection of very useful and practical fact sheets as below for Fact Sheets from TSSS

Factsheet 1: Pubertal induction 

Factsheet 2: Practical tips for pubertal induction

Factsheet 3: Footwear and foot care advice for girls

Factsheet 4: Footwear and foot care advice for women

Factsheet 5: Spatial awareness

Factsheet 6: Disclosure

Factsheet 7: Top tips on coping with tiredness

Factsheet 8: Problems with feeding

Factsheet 9: Speech and language problems

Factsheet 10: Genetic counselling

  • Australian Paediatric Endocrine Group: series Hormones and me booklets 

Turner Syndrome: Hormones and me 

  • National Institutes of health : National Institue of Child Health and Human Development has an in depth account of the clinical features of Turner Syndrome

Clinical features of Turner Syndrome

04 Clinicians Tools and Resources

  • Australian Poaediatirc Endocrine Group 

Turner Syndrome Management Guidelines 2003 G, Werther

  • Turner Syndrome Society of the United States has a great collection of resources for health professional including 
    • Copy of recent Clinical Practice Guidelines, 
    • Medical Care for TS Overview
    • TS growth Chart, 
    • Guide for families, 
    • Recommended books on learning and behaviour 
  • Turner Syndrome Support Society 
  • Excellent  Turner Syndrome Health Checklist to download as well as a range of fact sheets
The information published here has been reviewed by Flourish Paediatrics and represents the available published literature at the time of review.
The information is not intended to take the place of medical advice.
Please seek advice from a qualified healthcare professional.
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Last updated: 23/01/2011