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Girls with Turner Syndrome usually have normal intelligence and their progress at school is generally
If you need more advice about any aspect of Turner
good. However a small proportion of girls with Turner
Syndrome may have specific learning difficulties.
Sometimes they have particular difficulties with
South West Thames Regional Genetics Unit
mathematics and geometry, but their reading age may
St. George’s Hospital Medical School
be advanced. Activities involving dexterity, e.g. fine
finger movements and co-ordination, can occasionally
020 8266 6427
In girls with Turner Syndrome the eggs in the ovaries degenerate and disappear in early childhood and the
020 8725 3444
ovaries stop functioning properly well before the age that puberty would normally begin. The ovaries normally produce the sex hormones oestrogen and progesterone and it is oestrogen that is needed to start puberty. When
You may wish to contact the Child Growth Foundation
the ovaries do not function, puberty will only occur if
or the Turner Syndrome Support Society (UK), which are
replacement oestrogen therapy is given. The great
support groups specifically for girls with Turner
majority of girls with Turner Syndrome do not start their
periods or develop the adult female body shape without the help of some hormone treatment. Oestrogen is used
The Child Growth Foundation
to start off breast development, and progesterone and
oestrogen together help produce regular periods.
London W4 1PWTelephone: 020 8994 7625/ 020 8995 0257Website: www.cgf.org.uk
The Turner Syndrome Support Society (UK)
Girls with Turner Syndrome are almost always infertile,
because their ovaries are unable to produce eggs. A very
small proportion of young women with Turner
Syndrome may have a short time during their life when
E-mail address: Turner.firstname.lastname@example.org
Although girls with Turner Syndrome have non-functioning ovaries, they do have a normal womb and vagina, and will be able to have an entirely normal sex life. Some women with Turner Syndrome have had
This information sheet was compiled from a number of
successful pregnancies using donated eggs and in vitro
sources including the booklet 'Turner Syndrome: A guide
for Patients and Parents', produced by the Child Growth Foundation. Thanks also to the Clinical Genetics
St. George’s Hospital
suspected shortly after birth because a baby has an
unusually wide neck ("neck webbing"), puffy hands and feet, or occasionally a problem with the heart. Often a
Humans are usually born with 46 chromosomes, which
girl with Turner Syndrome is not diagnosed until early
are arranged in 23 pairs. One of these pairs determines
childhood, because she is not growing as well as
whether a baby is male or female, and these are known
expected. Some girls are diagnosed as teenagers when
as the sex chromosomes. Boys are born with the sex
they are taken to the doctor because their periods or
chromosomes XY, and girls are born with two X
puberty seem to be late in starting.
Occasionally, however, a girl is born with only one X
chromosome and this is known as Turner Syndrome
second X chromosome is usually missing in Turner
In Turner Syndrome there will usually be only one X
Syndrome. Occasionally it may be present, but abnormal
in some way. About 1 in 2,500 girls has Turner Syndrome.
Features of Turner Syndrome
chromosomes in total. The picture above is an enlarged
In Britain, it is estimated that there are about 10,000 girls
photograph of chromosomes from a person with Turner
and women who have Turner Syndrome. Even though
Turner Syndrome can have effects on many parts of the
these girls only have one normal X chromosome, they
body. Some of the most common features are listed
are 100 percent female. They may, however, have fertility
When one X is missing in all the cells of the body this is
below. Most girls with Turner Syndrome would have
often described as "classical Turner Syndrome". The
missing X has been lost some time during cell division in
Turner Syndrome is named after Dr. Henry Turner, who
the course of egg or sperm production. Some females
- Short stature (not so tall as other girls).
have abnormalities in one of their two X chromosomes.
- Widening of the neck ("webbed neck").
- Ovaries that do not function and infertility.
- An underactive thyroid gland.
Sometimes one X chromosome is missing from, or is
- A broad chest with widely spaced nipples.
abnormal in, some, but not all, of the cells of the body.
What causes Turner Syndrome?
- A heart murmur, sometimes associated with narrowing
This is referred to as "mosaic Turner Syndrome". In this
of the aorta (the main blood vessel that comes out of the
case, some of the cells have a normal chromosome
The cause of the missing or abnormal X chromosome in
pattern but others do not. Girls with Turner Syndrome in
Turner Syndrome is not known. No risk factors, such as
a mosaic form often have less obvious physical
raised maternal age, diet during pregnancy etc have
characteristics and may not have fertility problems.
been identified as being associated with an increased
Aspects of Turner Syndrome
risk of having a baby with Turner Syndrome.
GrowthGirls with Turner Syndrome tend to be short. Their
When is the diagnosis made?
growth rate may be normal for the first 2 or 3 years before slowing down. There are several ways to try and
Diagnosis and chromosomal findings
Turner Syndrome is sometimes suspected when an
improve the growth of girls with Turner Syndrome, and a
ultrasound scan is performed during pregnancy. When a
girl will usually need to be referred to a child growth
Girls with Turner Syndrome often have a typical
scan suggests Turner Syndrome, it can be confirmed by
specialist so that her individual needs can be assessed
appearance, and this is how the diagnosis is often first
checking the baby’s chromosome pattern. This can be
and the treatment options discussed. Although girls with
suspected. The diagnosis can be confirmed by
done during pregnancy by either an amniocentesis test
Turner Syndrome do not have growth hormone
or a chorionic villus sampling (CVS) test.
deficiency, growth hormone is often used to increase
Usually, however, the diagnosis is made later. It may be
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