TURNER’S SYNDROME
Turner syndrome (TS) is a medical disorder that affects about 1 in every 2,500 girls. Although
researchers don't know exactly what causes Turner syndrome, they do know that it's the result of a
problem with a girl's chromosomes (pronounced: krow-muh-soamz).
Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X
chromosome or they are missing part of one X chromosome. The effects of the condition vary widely
among girls with Turner syndrome. It all depends on how many of the body's cells are affected by the
changes to the X chromosome.
Girls with Turner syndrome are usually short in height. Girls with Turner syndrome who aren't treated
for short stature reach an average height of about 4 feet 7 inches (1.4 meters). The good news is that
when Turner syndrome is diagnosed while a girl is still growing, she can be treated with growth
hormones to help her grow taller.
In addition to growth problems, Turner syndrome prevents the ovaries from developing properly,
which affects a girl's sexual development and the ability to have children. Because the ovaries are
responsible for making the hormones that control breast growth and menstruation, most girls with
Turner syndrome will not go through all of the changes associated with puberty unless they get
treatment for the condition. Nearly all girls with Turner syndrome will be infertile, or unable to become
pregnant on their own.
Other Effects Turner Syndrome Can Have
A number of other health problems occur more often in girls with Turner syndrome, including kidney
problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, andthyroid
problems. Some girls with the condition may experience learning difficulties, particularly in math.
Many have a difficult time with tasks that require skills such as map reading or visual organization.
In addition to short stature and lack of sexual development, some of the other physical features
commonly seen in girls with Turner syndrome are:

a "webbed" neck (extra folds of skin extending from the tops of the shoulders to the sides of the
neck)

a low hairline at the back of the neck

drooping of the eyelids

differently shaped ears that are set lower on the sides of the head than usual

abnormal bone development (especially the bones of the hands and elbows)

a larger than usual number of moles on the skin

edema or extra fluid in the hands and feet
Because Turner syndrome can affect how a girl looks and develops, some girls may have problems
with body image or self-esteem.
People with TS are all different. Some may have many physical differences and symptoms, whereas
others experience only a few medical problems. With early and appropriate medical care and ongoing
support, most people with TS can lead normal, healthy, and productive lives.
Diagnosing Turner Syndrome
Girls with Turner syndrome are usually diagnosed either at birth or around the time they might be
expected to go through puberty. If a baby girl has some of the signs of Turner syndrome, a doctor will
usually order a special blood test called a karyotype. The test counts the number of chromosomes
and can identify any that are abnormally shaped or have missing pieces. In some cases, there are no
recognizable signs that a girl has the condition until she reaches the age at which she would normally
go through puberty.
If the karyotype blood test reveals that a girl has Turner syndrome, her doctor may order additional
tests to check for problems with the kidneys, heart, hearing, and other problems that are often
associated with Turner syndrome.
Treating Turner Syndrome
Because Turner syndrome is a condition that is caused by a chromosomal abnormality, there's no
specific cure. However, scientists have developed a number of treatments that can help correct some
of the problems associated with the condition — such as growth problems — and researchers are
constantly looking into new forms of treatment.
Growth hormone treatment can improve growth and influence a girl's final adult height. In fact, in
many cases, the treatment can help many girls with Turner syndrome reach a final height in the
average range, especially if treatment is started early enough in childhood.
Another treatment for Turner syndrome is estrogen replacement, which helps the girl develop the
physical changes of puberty, including breast development and menstrual periods. This treatment is
often started when a girl reaches about age 12 or 13.
And a technique called in vitro fertilization can make it possible for some women with Turner
syndrome to become pregnant. A donor egg can be used to create an embryo, which is then put into
the uterus (womb) of the woman with Turner syndrome. With proper supportive care, the woman can
carry the pregnancy to term and deliver a baby through the normal birth process.
Living With Turner Syndrome
Although people with Turner syndrome may have certain learning difficulties, the majority are able to
attend regular school and classes and are generally able to:

write well

learn well by hearing

memorize information as well as others

develop good language skills
If you have Turner syndrome, you know that it can affect you in several ways. But it's only a small
part of your total physical, emotional, and intellectual self.
Here are some suggestions that can help you cope:

Join a support group for girls with Turner syndrome. Ask your doctor or parents for more
information or for help finding a Turner Syndrome Society chapter in your area.

Stay active in sports or hobbies that you enjoy.

Consider doing volunteer work. Helping other people can boost your self-esteem and your
confidence, too.

Consider talking to a professional therapist. A qualified counselor or other mental health
professional can help you build your self-esteem and address your concerns about living with
Turner syndrome. Discuss this with your parents if you think you might need help.

Keep a journal or diary in which you can record your thoughts and feelings about the challenges
you're dealing with.

Talk to your parents or school counselor if you are having problems at school.
If you have a friend who has Turner syndrome, remember to respect her emotional and physical
needs. For example, she may not always feel comfortable talking about her condition, so let her share
only what she feels OK with. You can also support your friend just by hanging out and doing things
you enjoy together and by being a good listener if she turns to you for advice or comfort
SYMPTOMS
Turner syndrome is a condition affecting development in females. It is seen to affect about 1 in every
2,500 girls. Women normally have two X chromosomes in each cell, however, women with this disorder
are born with one X chromosome only or have one part of the same missing. Also called Ullrich-Turner
syndrome, this condition was named as turner syndrome by Dr Henry, who discovered the condition in
1938. There are two types of turner syndrome, one which features lack of complete X chromosome and is
referred to classical turner syndrome, while the other called mosaic turner syndrome, features
abnormalities in X chromosomes of only some cells in the body. Of the two types, mosaic turner
syndrome symptoms are milder than the former. Depending on the extent of abnormalities, the turner
syndrome symptoms will vary. Read more on turner syndrome facts.
What are the Symptoms of Turner Syndrome
Though signs and symptoms of turner syndrome vary from individual to individual, the most common
symptoms for turner syndrome are:
Short Stature
The gene responsible for long bone growth is situated on the X chromosome. Hence, damage caused to
this chromosome or missing part of the same, can result in short stature. Women with this syndrome
typically attain a height of 4 feet 7 inches.
Webbed Neck
Women with turner syndrome also feature a shorter neck with extra skin enveloping it. The extra skin
forms folds on the neck, thereby giving the neck a webbed appearance.
Lack of development of the ovaries, leading to infertility
The abnormalities on the X chromosome conduces to problems with ovary development. The gene called
SHOX or short stature homeobox is associated with occurrence of turner syndrome. Menstruation starts in
the late teens, which gradually comes to a halt, thereby making most women with this syndrome infertile.
However, infertility is not the case with every one. There are rare reports of women with turner syndrome
becoming pregnant. Breast development is also slow or limited.
Other Turner Syndrome Symptoms












Skeletal abnormalities
Puffiness in the hands and feet
Low hairline
Saggy eyelids
Obesity
Low ears
Spots on skin (colored)
Short fingers and toes
Hearing problems
Lower jaw smaller than normal
Irregular rotation of wrist and elbow joints
Soft nails turning upward at the ends at old age
Some of the women also encounter heart defects and kidney problems. They are also prone to medical
conditions like high blood pressure, blood vessel problems, osteoporosis, thyroid disorder and type II
diabetes. Their difference from other women during puberty causes them to become self-conscious and
have low self-esteem. They become anxious and depressed.
Women with this syndrome have intelligence levels like other women without this syndrome. Thus,
women with turners syndrome do not have impaired cognition and are not mentally retarded. However,
they do face certain problems due to developmental delays. They face some learning problems,
especially learning mathematics. However, they can write, read and memorize well. They even develop
good language skills and find jobs that can earn them a living.
Read more on :


Symptoms of Turner Syndrome
Treatment of Turner Syndrome
Since, turner syndrome is a genetic disorder, there is no cure for it. However, turner syndrome symptoms
can be subdued to some extent, if diagnosed early in childhood. Girls can be given human growth
hormones to assist bone growth, thus, increasing their stature slightly. Moreover, estrogen therapies are
there for women with an absence of puberty. Estrogen hormone also helps prevent osteoporosis. Women
with dysfunctional ovaries are unable to conceive. However, with invitro fertilization and egg donations,
women with turner syndrome can have children of their own.
CAUSES
An Introduction to the Cause of Turner Syndrome
Turner syndrome is a condition that is present at birth and only affects females. It can
cause several different symptoms, from minor cosmetic issues to major heart defects.
Almost all women with this condition have short stature and loss of ovarian function. The
cause of Turner syndrome is the complete or partial absence of one of the two X
chromosomes (sex chromosomes).
Understanding the Sex Chromosomes
Humans normally have a total of 46 chromosomes (which are tiny, DNA-containing
elements) that are present in every cell of the body. DNA encodes genes, which specify all
the proteins that make up the body and control its functions.
In humans, there are 23 pairs of chromosomes in cells. One pair is inherited from each
parent. Each cell contains 22 pairs of chromosomes called autosomes that are the same in
males and females. The remaining pair of chromosomes, the X and Y chromosomes, are not
shaped similarly, and thus are not matched in the same way as the autosomes.
The X and Y chromosomes are called sex chromosomes. They are responsible for the
difference in development between males and females. A Y chromosome contains genes
responsible for testis development, and the presence of an X chromosome paired with a Y
chromosome will determine male development. On the other hand, two X chromosomes are
required for normal ovarian development in females.
Turner syndrome results when a female's cells have one normal X chromosome and the
other sex chromosome is missing or altered. The missing genetic material affects
development and causes the characteristic Turner syndrome features.
TREATMENT
As a genetic disorder, Turner's syndrome lacks a cure, but the effective management of the
disorder is possible
With our renewed understanding of genetics, treatment options have significantly
improved for the related disorders. The main goal of the treatment, in the case of the
Turner's patients, is directed towards increasing final height, induction of secondary
sexual
development
and
menarche.
Growth hormone supplementation is the standard treatment for increasing
height. The height gain, at the end of treatment, is based on several factors such as age
at which therapy was initiated, the duration of treatment and the dose of the hormone
given. Growthhormone supplementation should be started at the age of 4 or at the time
of diagnosis of the disorder, whichever is earlier. It is now known that after 3-7 years of
treatment, patients may be able to gain a height of about 8-10 cms. No side effects have
been
documented.
Most patients require ovarian hormone therapy (estrogen, a female sex
hormone). This should be started at around the age of 12 to 15 years to induce puberty
and maintain a normal female endocrine status. Hormone replacement therapy
(HRT) is very important as it reduces the risk associated with ovarian failure, more
specifically osteoporosis and heart failure. Monitoring of the heart function through
echocardiography, management of diabetes and osteoporosis is highly significant in
these
patients.
With novel endeavors in the field of assisted reproduction, pregnancy has been
made a possibility in these patients. In patients who menstruate spontaneously, more
than 50% pregnancy rates have been reported.However, these patients are more prone
to miscarriage and chromosomal abnormalities. Twinning is also more common. In the
other group, where patients have only streak ovaries, pregnancy can be achieved
through eggs obtained from donors.