Turner Syndrome

What is Turner syndrome?

Turner syndrome is a genetic condition that is caused by a missing chromosome. To
understand what Turner syndrome is, it is helpful to know something about genes and
chromosomes.

What are genes and chromosomes?

Our bodies are made up of millions of cells. These cells are grouped together to make up
parts of the body such as our muscles, our heart and our brain. Cells carry all the
information needed for our bodies to work. The information is contained in our genes. We
each inherit two copies of most genes, one copy from our mother and one copy from our
father. Genes act like a set of instructions, controlling our growth and how our bodies work.
Genes are responsible for many of our characteristics, such as our eye colour, blood type
or height.
Genes are carried on thread-like structures called chromosomes. It is possible to see
chromosomes under a microscope. Picture 1 shows what they look like.

Picture 1.
Chromosomes as they appear
under a microscope

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Usually, each of us has 46 chromosomes in every cell. We inherit our chromosomes from
our parents, one set of 23 chromosomes from our mother and one set of 23 chromosomes
from our father. So we have two sets of 23 chromosomes, or 23 pairs. The pairs of
chromosomes are numbered according to size, starting with the largest chromosome,
chromosome 1, through to chromosome 22. The remaining pair are called the sex
chromosomes.

Picture 2. The chromosomes arranged according to size; chromosome 1

is the largest. The two chromosomes at lower right are the sex
chromosomes.

There are two kinds of sex chromosome, one called the X chromosome and one called the
Y chromosome, and they control whether a person is male or female. Females normally
have two X chromosomes (XX), as shown in picture 2. A female inherits one X
chromosome from her mother and one X chromosome from her father. Males normally
have an X chromosome and a Y chromosome (XY). A male inherits an X chromosome
from his mother and a Y chromosome from his father.

Turner syndrome
Turner syndrome affects only girls and is caused by complete or partial loss of one X
chromosome. A girl or woman with Turner Syndrome has only one X chromosome (45,X,),
rather than two, as normal (46,XX).

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Occasionally, an affected person has only a part of one X chromosome missing, rather
than the whole X chromosome; she may be less affected by the disorder than a person
who has lost an entire X chromosome. Another possibility is that a person with Turner
syndrome is a mosaic: she has the normal number of X chromosomes (XX) in some cells,
and only one X chromosome (X) in other cells. The effects of Turner Syndrome in a
mosaic depend on the proportion of XX cells to X cells throughout her body.
A very few girls with Turner Syndrome have a fragment of Y chromosome material as well
as a single X chromosome. It is important to identify these girls, as the presence of Y
chromosome material puts them at risk of developing a tumour (cancer) of their ovaries
(the part of the body that makes eggs). For these very few girls, surgery is generally
recommended, to remove the ovaries.

What causes Turner syndrome?

The majority of parents with a daughter with Turner syndrome have a normal number of
chromosomes themselves. The loss of an X chromosome occurs either during the making
of the parents eggs and sperm, or shortly after an egg and sperm come together to make
a baby, at conception. It happens by chance and is not caused by anything that the
parents did or did not do.

Will it happen again?

It is very unlikely that Turner syndrome will affect another child of the same couple. Some
parents decide to have a test in a future pregnancy to check the chromosomes of the
baby. Testing can be discussed at a genetics clinic.

What are the features of Turner syndrome?

A syndrome is a pattern of features occurring together. The most common outward
physical features of Turner syndrome are listed here. Most girls with Turner syndrome
would be expected to have some, but not all of these features:
broad chest with widely spaced nipples
low hairline
low set ears
small lower jaw
webbed neck (loose skin between the side of the neck and the top of the shoulder)
drooping eyelids
spoon shaped nails
puffy hands and feet

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short fingers and toes
short stature (height)
moles
Turner syndrome is also associated with some medical problems, the most common
problems are:
heart murmur
narrowing (coarctation, of the aorta, the major blood vessel which takes blood from
the heart to the rest of the body
under-active thyroid gland
tendency to get ear infections
short sightedness
high blood pressure
kidney problems
osteoporosis (weakened bones)
specific learning difficulties
infertility

Turner syndrome and growth

Girls with Turner syndrome tend to be shorter in height than other members of their
families. They usually grow at a normal rate until around 3 or 4 years of age, when their
growth may begin to slow down. Treatment is available to help improve the growth of girls
with Turner syndrome. A specialist doctor should see each girl, to assess her individual
needs and to discuss the treatment options. Girls with Turner syndrome produce normal
amounts of growth hormone (a chemical in the body which encourages growth), but
treatment with growth hormone as a medicine can increase their final height.

Turner syndrome and puberty

The eggs in the ovaries of girls with Turner syndrome degenerate and disappear in early
childhood. The ovaries cannot produce the hormones that are needed to start puberty.
Sometimes the diagnosis of Turner syndrome is made only when a girls periods fail to
start. Doctors may recommend treatment with female hormones (oestrogen and
progesterone) to encourage breast development and to bring on monthly bleeding
(periods).

Turner syndrome and fertility

Girls with Turner syndrome do not have ovaries that can produce eggs. This means that
nearly all girls and women with Turner syndrome are infertile. Girls who are mosaics for
Turner syndrome (see genes and chromosomes section, above) may be fertile, but this is
rare.
Women with Turner syndrome are able to have an entirely normal sex life. They also have
a normal uterus or womb and vagina. Some women with Turner syndrome have been able
to have a child using fertility treatments such as donor eggs and in vitro fertilisation (IVF).

Other health problems

A few girls with Turner syndrome may be born with a heart murmur or a narrowing of the
aorta (the major blood vessel from the heart). Girls with complications involving the heart
will need assessment by a specialist heart doctor (cardiologist) and some will need surgery
to correct the problem.
High blood pressure is common in Turner syndrome from puberty onwards. Regular blood
pressure checks allow high blood pressure to be detected and treated as necessary.

Growing up with Turner syndrome

Each girl or woman with Turner syndrome is an individual and may be affected differently
from another person. Some girls with Turner syndrome may have difficulties at school and
with some areas of their education. Most girls with Turner syndrome have normal
intelligence. Some girls may have specific learning difficulties, particularly with subjects
such as mathematics. Their reading ability may be advanced for their age.
Low self esteem, lack of assertiveness and shyness are more common in girls with Turner
syndrome. As a result, teasing and bullying may be a problem at school. Girls between the
ages of around thirteen to nineteen years may find it difficult when their friends start
puberty, and their concerns should be addressed. Treatment normally allows the girls to
enter puberty alongside girls of their own age, but this depends on the individual and her
treatment.

Where can I get more information about Turner syndrome?

This is only a brief guide to Turner syndrome. More information can be obtained from your
local regional genetics centre or from these addresses:

Turner Syndrome Support Society

12 Irving Quadrant,
Hardgate,
Clydebank
G81 6AZ
Telephone: 01389 380385
Email: Turner.syndrome@tss.org.uk

Web: www.tss.org.uk

The Genetic Interest Group

Unit 4D,
Leroy House,
436 Essex Rd.,
London N1 3QP
Telephone: 020 7704 3141
Email: mail@gig.org.uk

Web: www.gig.org.uk

Contact a Family
209-211 City Rd.,
London EC1V 1JN
Telephone: 020 7608 8700 FAX: 020 7608 8701
Helpline 0808 808 3555 or Textphone 0808 808 3556
(Freephone for parents and families, 10am-4pm, Mon-Fri)
Email: info@cafamily.org.uk
Web: www.cafamily.org.uk
This edition prepared July 2005

Ref: 22

Glossary (difficult words and their meanings): Turner Syndrome

This glossary is intended only to explain terms used in the information: Turner syndrome.
Words shown in bold are defined elsewhere in the glossary.

(45,X). Scientific abbreviation for the chromosomes usually found in someone with
Turner syndrome. There are 45 chromosomes, instead of the usual 46, and there is one
X chromosome, instead of the usual two in a female.
22

(46,XX). Scientific abbreviation for the chromosomes usually found in women and
girls. There are 46 chromosomes, including two X chromosomes.

aorta. A very large blood vessel that carries blood from the heart to the rest of the body.
cancer. Abnormal growth of cells.
cardiologist . A doctor who specialises in conditions which affect the heart.
cell . The human body is made up of millions of cells, which are like building blocks. There
are many specialised types of cells. These include skin cells, brain cells, and blood cells.
Cells in different parts of the body look different and do different things. Every cell (except
for eggs in women and sperm in men) contains all the bodys genes.

chromosomes. Thread-like structures which can be seen under the microscope and
contain the genes. Usually people have 46 chromosomes in every cell. There are two sex
chromosomes and 22 other pairs of chromosomes. Twenty-three chromosomes come
from the mother, and twenty-three come from the father. One chromosome of each pair
comes from each parent. (As an analogy: a chromosome is like a book; a gene is like a
story in the book).

coarctation of the aorta. Narrowing of the aorta. This may cause problems with the
circulation of the blood.

conception. When an egg and a sperm join together to make the first cell of a new
baby.

donor eggs. Eggs donated by another woman, to allow in vitro fertilisation (IVF) and
the hope of pregnancy, in a woman whose own eggs are unsuitable or missing.

egg. The mothers contribution to the cell which will grow to make a new baby. The egg
contains 23 chromosomes; one from each pair in the mother. A sperm also contains 23
chromosomes one from each of the fathers pairs. The egg joins with a sperm to make a
complete cell. A baby develops from this first cell.

fertility. Ability to have children. Fertility treatments increase fertility.

gene. Information needed for the body to work, stored in a chemical form on
chromosomes. Changes in genes alter the information and this can change how the body
works. Most genes are in pairs, one from the mother and one from the father. The two
genes of a pair are at matching places on a pair of chromosomes. Genes on the X
chromosome and the Y chromosome of males are not paired with each other; they do
not match. (As an analogy: a gene is like a story in a book, changes in genes are like
changes in a story).

genetic. Caused by genes, concerning genes.

growth hormone. A chemical made by the body. It encourages normal growth.
Medical treatment with growth hormone can increase the final height of girls with Turner
syndrome.

heart murmur. A sound heard by a doctor who listens to a patients heart. It may
indicate a problem with the movement of blood through the heart.

hormones. Chemicals made by the body to control particular tasks such as growth, the
start and progress of puberty or making eggs. Hormones may also be given as
medicines.

infertile. Unable to have children. Most girls and women with Turner syndrome are
infertile. Some girls and women with mosaic Turner syndrome are fertile.

in vitro fertilisation, IVF. Joining of the egg and sperm outside the body, in a tube in
a laboratory. After transfer into the mothers womb, the hope is that the resulting
pregnancy will be healthy.

moles. Small patches of darker colour on the skin.

mosaic. A person who has some cells with the usual number of X chromosomes (XX),
and some cells with only one X chromosome (X). The effect on the person depends on
the proportion of cells which have one and two X chromosomes throughout the body.

oestrogen. A female hormone which is normally made by the ovaries and is important
in puberty. Can also be given as a medicine.

osteoporosis. Weakening of the bones, which makes them more likely to break.
ovaries. Parts of a womans body that produce eggs.
period. Monthly bleeding (menstruation) in a woman.
progesterone. A female hormone which is normally made by the ovaries and is
important in puberty. Can also be given as a medicine.

puberty. Start of changes in the body, including increase in height, breast development
and the start of menstruation (periods).

sex chromosomes. The X chromosome and the Y chromosome. The sex

chromosomes control whether a person is male or female. Females usually have two X
chromosomes. Males usually have one X chromosome and one Y chromosome.

sperm. The fathers contribution to the cell which will grow to form a new baby. Each
sperm contains 23 chromosomes; one from each pair in the father. An egg contains one
chromosome from each of the mothers 23 pairs. The sperm joins with an egg to make a
complete cell. A baby develops from this first cell.

syndrome. A group of features which occur together in affected people. Affected people
share some or all of the features of the syndrome.

thyroid gland. Part of the body at the front of the neck. It makes a hormone which helps
to control energy levels, and affects growth, the heart and the gut.

uterus. Medical term for the womb.

vagina. The connection from the womb to the outside of a woman, the birth canal.
webbed neck. Loose skin stretching from the side of the neck to the top of the shoulder.
womb. The part of a womans body in which a baby grows during pregnancy.
X chromosome. One of the sex chromosomes. Females usually have two X
chromosomes. Females with Turner syndrome have only one X chromosome. Males
have one X chromosome and one Y chromosome.

XX. This represents the usual sex chromosomes of a female. Females usually have two
X chromosomes. One X chromosome is inherited from each parent. Females with
Turner syndrome have only one X chromosome.

XY. This represents the usual sex chromosomes of a male. Males have one X
chromosome and a Y chromosome. A male inherits his X chromosome from his
mother and his Y chromosome from his father.

Y chromosome. One of the sex chromosomes. Males have one Y chromosome and
one X chromosome. Females usually have two X chromosomes.
This glossary is intended only for use by patients and families, with the genetic
information to which it refers.
This edition prepared in July 2005

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