Turner Syndrome There are many possible reasons why a child may grow slow, including: hereditary factors, hormone imbalances, severe stress or emotional deprivation, infections in the womb before birth, bone diseases, and genetic or chromosomal abnormalities. American doctor Henry Turner recognized a pattern of short stature and unfinished sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome. Turner's syndrome is a rare chromosomal disorder that affects one in approximately 2, 500 females. Females normally have two X-chromosomes but, in those with Turner's syndrome, one X chromosome is absent or is damaged. Turner's syndrome may be diagnosed with one of many different names such as: 45 - X Syndrome, Chromosome X, Monosome X, and Ovarian Dwarfism (Medline's Plus).
Turner syndrome usually occurs periodically, which means that the change occurs in fetal development and is not inherited from either parent. In rare cases, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter, this is the only situation in which Turner syndrome is inherited. A reduced growth height is the most common visible characteristic of the syndrome and may be the only sign before puberty. Their body proportions are normal 1 but girls with this syndrome may have many middle ear infections during childhood. If not treated, the infections could cause hearing loss. Up to the age of about 2 years, growth in height is about normal, but then it lags behind that of other girls.
Reduced growth height of a female, should lead to a chromosome test if no diagnosis has been made. Early diagnosis is important in order to be able to give enough information to the parents, and gradually to the child herself, so that she has the best chances for development. The most common defect is a narrowing of the main artery from the heart. This type of heart defect is present at birth and can be corrected with surgery. If it is not present at birth, it does not develop later in life. A regular ultrasound examination of the heart is recommended in all girls with Turner syndrome.
The best test for diagnosing Turner syndrome is called a karyotype. The doctor draws a small amount of blood and sends it to a laboratory where well trained specialists are able to separate the chromosomes in the white blood cells. They count the chromosomes and examine them carefully for abnormalities. The lack of sexual development at puberty is the second most common characteristic. Girls with Turner syndrome have unusual chromosomes which cause short stature and poorly developed ovaries. Affected females may also show 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, decrease of tears when crying, a single crease in the palm, puffy hands and feet, unusual shape and rotation of ears, small lower jaw, hearing loss, 2 scoliosis, and overweight (Nielsen).
A normal female has 46 chromosomes, of which the two sex chromosomes are X-chromosomes. This is expressed as 46 XX, and men are 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 making of ovaries and female sex hormones, and growth in height.
Girls with Turner syndrome are born with ovaries and egg cells, but the lack of X-chromosome material results in regular loss of the egg cells. At some point in childhood, usually during the first years of life, no egg cells are there. Ovaries are then present without egg cells. If females have no egg cells then they won't be able to develop sex hormones, which is necessary for a girl to start puberty. In girls with Turner syndrome, there are not enough hormones produced for the girl to start puberty.
The cause of the change in the sex chromosome that leads to Turner syndrome is not known. 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, one X chromosome is missing from the cells, and research studies suggest that approximately 40% of these people 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. Some cells may have the normal pair of X-chromosomes while other cells do not. Although the exact cause of Turner's syndrome is not known, it is believed that the disorder may result from an error during the separation of a parent's sex cells.
In about 80% of cases, 3 where one of the X-chromosomes is missing it is thought to be the father's X-chromosome that is absent. In recent years, the Turner syndrome has been treated by using a growth hormone, given as injections under the skin. Experiments are relatively limited. So far, researchers think it will be possible to increase the final height by 5 to 10 centimeters, depending on the length of treatment.
Treatment is started at different ages in different countries, but often at age of 6-7 years. In order to reach puberty development and a body height of more than the average of 146 cm, o estrogen and growth hormone must be given. Oestrogen therapy should start after she has taken the growth hormone for at least two years. Use small doses at first to promote sexual development. The treatment can be given as tablets, injections, or o estrogen plaster. Psychological treatment consists of counseling for parents and child at various stages of childhood and adult development.
It is important that the parents, and later the girl herself, have a good understanding of Turner syndrome and its implications, as well as the treatment plan the doctor suggests (Riser, 84) IQ is generally normal although some children have learning difficulties. More than half of all patients with Turner syndrome are mosaics, which means that the mutation occurs in some but not all of the cells of their body. This means that it can vary in harshness since the fewer cells affected the more mild the disease will be. 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 4 o estrogen injections 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..