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Turner Syndrome Essay, Research Paper

There are many possible reasons why a child may grow slowly, including:

hereditary factors (short parents), diseases affecting the kidneys;

heart, lungs or intestines; hormone imbalances; severe stress or

emotional deprivation; infections in the womb before birth; bone

diseases; and genetic or chromosomal abnormalities.

The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a

congenital disease. A German doctor named Ullrich published his article

in 1930. American doctor Henry Turner recognized a pattern of short

stature and incomplete sexual maturation in otherwise normal females. He

published a comprehensive medical description of the syndrome. It was

not until 1959, that it became clear the syndrome was due to lack of sex

chromosome material. Turner’s Syndrome is a rare chromosomal disorder

that affects one in approximately 2,500 females. Females normally have

two X-chromosomes. However, in those with Turner’s Syndrome, one X

chromosome is absent or is damaged.


Depending on the doctor, Turner’s Syndrome may be diagnosed with one of

the following alternative names: 45 – X Syndrome, Bonnevie-Ulrich

Syndrome, Chromosome X, Monosomy X, Morgagni-Turner-Albright Syndrome,

Ovarian Dwarfism, Turner Type, among others.


A reduced growth in height is the commonest visible characteristic of

the syndrome, (the average adult height is 4 feet 8 inches) and may be

the only sign before puberty. Their body proportions are normal. Girls

with this syndrome may have many middle ear infections during childhood;

if not treated, these chronic infections could cause hearing loss. Up to

the age of about 2 years, growth in height is approximately normal, but

then it lags behind that of other girls. Greatly reduced growth in

height of a female child should lead to a chromosome test if no

diagnosis has already been made. Early diagnosis is very importance in

order to be able to give enough correct information to the parents, and

gradually to the child herself, so that she has the best possibilities

for development. Early diagnosis is also important in case surgical

treatment of the congenital heart defect (seen in about 20 per cent of

cases) is indicated. The commonest defect is a narrowing of the main

artery from the heart aortic coarctation. A regular ultrasound

examination of the heart is recommended in all girls with Turner

syndrome. This type of heart defect is present at birth and can be

corrected surgically. If not present at birth, it does not develop later

in life. The lack of sexual development at puberty is the second most

common characteristic. Having abnormal chromosomes does not mean that

girls with Turner syndrome are not really female; they are women with a

condition that causes short stature and poorly developed ovaries.

Affected females may also exhibit the following symptoms: infertility,

kidney abnormalities, thyroid disease, heart disease, abnormalities of

the eyes and bones, webbed neck, low hairline, drooping of eyelids,

abnormal bone development, absent or retarded development of physical

features that normally appear at puberty, decrease of tears when crying,

simian crease (a single crease in the palm), a “caved-in” appearance to

the chest, puffy hands and feet, unusual shape and rotation of ears,

soft upturned nails, small lower jaw, arms turned out slightly at

elbows, shortened 4th fingers, small brown moles, hearing loss,

scoliosis, cataracts , scars, overweight, Chrohn disease.

Chromosome Patterns

The normal female has 46 chromosomes, of which the two sex chromosomes

are X-chromosomes. This is expressed as 46,XX (men: 46,XY). In many

women with Turner syndrome, one of the X-chromosomes lacks completely,

and the chromosome pattern then becomes 45,X.

The X-chromosome in women is the carrier of genes related to production

of ovaries and female sex hormones, and to growth in height. Girls with

Turner syndrome are generally born with ovaries and egg cells, but the

lack of X-chromosome material results in gradual disappearance of the

egg cells. At some point in childhood, usually during the first years of

life, no egg cells remain. Ovaries are then present without egg cells.

The female sex hormone (oestrogen), necessary for the girl to start

puberty, is usually produced by the egg cells. In girls with Turner

syndrome, insufficient oestrogen is produced for the girl to start

puberty. Neither spontaneous development of puberty nor the accompanying

growth spurts are seen in girls with Turner syndrome.


The cause of the change in the sex chromosome that leads to Turner

syndrome is not known, nor is it known why the different symptoms

related to the syndrome develop. Other chromosome defects are more often

seen in children of elderly mothers, sometimes also elderly fathers, but

this does not seem to apply to Turner syndrome. . In some cases of

Turner’s Syndrome, however, one X chromosome is missing from the cells

(45,X); research studies suggest that approximately 40 percent of these

individuals may have some Y chromosomal material in addition to the one

X chromosome. In other affected females, both X-chromosomes may be

present, but one may have genetic defects. In still other cases, some

cells may have the normal pair of X-chromosomes while other cells do not

(45,X/46,XX mosaicism). Although the exact cause of Turner’s Syndrome is

not known, it is believed that the disorder may result from an error

during the division (meiosis) of a parent’s sex cells.

In about 80 per cent of cases, where the whole of one of the

X-chromosomes is missing (45,X), it is thought to be the father’s

X-chromosome that is absent.


In recent years, the condition has been treated using a growth hormone,

given as injections under the skin (subcutaneous) in the evening.

Experiments are relatively limited. So far, researchers think it will be

possible to increase the final height by 5-10 centimeters, depending on

the duration of treatment. Treatment is started at slightly different

ages in different countries, but often at an age of about 6-7 years.

In order to achieve puberty development and a body height of more than

the average of about 146 cm, oestrogen and growth hormone must be given.

Oestrogen therapy should start after one has taken the growth hormone

for at least two years (about 12-13 years old is average), using small

doses at first to promote sexual development. Oestrogen is gradually

supplemented by progesterone (a stronger female hormone) as the girl

matures. The treatment can be given as tablets, injections, or oestrogen


Identification and Cure

Although Turner Syndrome can be identified in the fetus or with a blood

test, there is not a known cure for it.

With growth hormone replacement therapy and oestrogen injections (female

hormones), the female victim of Turner syndrome can live an outwardly

normal life. Ongoing research in reproduction and adoption make it

possible for these women to marry and raise children.

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