Turner Syndrome
 
 
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 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. 

Cause 

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. 

Treatment 

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 plaster. 

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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