What is Turner syndrome?
Why does it happen?
What are the chances of it happening in another pregnancy?
How does Turner syndrome affect a person?
Does a person with Turner syndrome look different?
Can a person with Turner syndrome walk?
Do people with Turner syndrome need medical treatment?
What sorts of lives do people with Turner syndrome lead?
Can people with Turner syndrome have children?
Do people with Turner syndrome have a reduced life expectancy?
Who can I contact for more information?

What is Turner syndrome?
The word syndrome means a collection of characteristics. The name Turner comes from the American Endocrinologist Dr Henry Turner, who in 1938 described seven female patients with similar physical features including short stature and the absence of female sexual characteristics. Turner syndrome is a chromosome disorder that affects only women and has an incidence of about 1 in 2000 live female births.
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Why does it happen?
Normally each cell in a female's body contains two X chromosomes (XX). Turner syndrome occurs when there is complete or partial absence of one X chromosome (X0). If this occurs in some but not all cells then it is referred to as mosaicism. The second X may be lost at the time of conception or may be missing from the mother's egg or father's sperm.
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What are the chances of it happening in another pregnancy?
The recurrence risk of Turner syndrome is very low.
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How does Turner syndrome affect a person?
Most girls with Turner syndrome only have a few of the characteristics associated with the condition, but short stature and infertility are nearly always present:
Short stature
Non-functioning ovaries leading to absence of pubertal development and infertility
Extra folds of skill on the neck
Puffy hands and feet
Coarctation or narrowing of the aorta
Feeding problems in early childhood
Broad chest with widely spaced nipples
Small spoon shaped nails
A low hairline
Low set ears
Increased carrying angle of the arms
Hearing problems
High blood pressure
Thyroid problems
Diabetes
Learning difficulties (not mental retardation)
Behaviour problems
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Does a person with Turner syndrome look different?
Women and girls with Turner syndrome are shorter than normal. Some women have a broad chest and/or neck and sometimes there are extra skin folds on the neck. This 'neck webbing' can be corrected, for cosmetic reasons, with surgery. Small nails, low set ears and a low hairline may also be noticeable. In many cases only a few of the above may be present.
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Can a person with Turner syndrome walk?
Yes.
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Do people with Turner syndrome need medical treatment?
If coarctation of the aorta (narrowing of the main artery from the heart) occurs, this may require correction by surgery. Medication may be required to treat problems such as thyroid problems, high blood pressure or diabetes. The options of growth hormone treatment for short stature and IVF for infertility are also available for women with Turner syndrome.
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What sorts of lives do people with Turner syndrome lead?
During infancy and childhood there may be difficulties with sleeping and feeding. Middle-ear infections are also common. Activities involving co-ordination may be difficult for girls with Turner syndrome but this generally improves with age. Short stature and absence of pubertal changes can be treated with hormone, with the outcome dependent on factors such as when it was started. The average height for women with Turner syndrome is 4'8" but with growth hormone treatment this can be increased by up to 3". If a women with Turner's syndrome wants to have children, her infertility can be distressing. However IVF has been used with great success in these cases. In general, women with Turner's syndrome lead happy healthy, fulfilled, normal lives with few problems.
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Can people with Turner syndrome have children?
It is unlikely that a woman with Turner syndrome will have children without medical help. However, fertility treatment, using a donated egg from another woman, is a possibility. Even though women with Turner syndrome have non-functioning ovaries the vagina and uterus (womb) are normal. This means that women can have a normal pregnancy and delivery.
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Do people with Turner syndrome have a reduced life expectancy?
No.
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Who can I contact for more information?
The Turner Syndrome Support Society ( UK )
12 Irving Quadrant,
Hardgate
Clydebank
G81 6AZ
Tel: 01389 380 385
Fax: 01389 380384
Email: Turner.Syndrome@tss.org.uk
http://www.tss.org.uk

The Turner Society
Child Growth Foundation
2 Mayfair Avenue,
Chiswick
London
W4 1PW
Tel: 020 8995 0257 / 020 8994 7625
Fax: 020 8995 9075
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