Turner Syndrome
Essay by review • November 2, 2010 • Essay • 1,112 Words (5 Pages) • 1,862 Views
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.
OTHER NAMES
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.
SYNDROME CHARACTERISTICS
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 diseasChromosome 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
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