Turner Syndrome
Clinical features and karyotypes
This presentation includes:
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Clinical features of Turner syndrome
Clinical photographs showing features of Turner syndrome
Histology slide of ovarian tissue in Turner syndrome
Karyotypes of Turner patients.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Turner Syndrome
Clinical features
Possible antenatal findings:
• Cystic hygroma, chylothorax, ascites, hydrops
Possible neonatal features:
• Lymphoedema, webbed neck, coarctation of the aorta, renal anomalies
Other features include:
• Short stature, infertility due to streak gonads or premature ovarian failure
(if mosaic TS), educational or behavioural problems
Note:
Features are variable and lymphoedema may be the only clinical feature at birth.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Turner syndrome
(a) Puffy feet. (b) redundant skin at back of neck. (c) Histology of gonads: ovarian cortical strome devoid of
germ cell elements.
Fig. 2.3 ©Scion Publishing Ltd
Photo. (c) courtesy of Dr Godfrey Wilson
© 2009 NHS National Genetics Education and Development Centre
.
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Karyotype of Turner Syndrome patient
Although this patient will never be able to have children normally, treatment with oestrogens can allow her to
develop normal secondary sex characteristics and greatly assist her personal and social life. Modern
reproductive technology has allowed some Turner syndrome patients to bear children using donor eggs.
Treatment with growth hormone can result in improved growth and final height.
Fig. 2.13 ©Scion Publishing Ltd
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
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© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk