Turner Syndrome

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, Monosomy X, and Ovarian Dwarfism (Medlines 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

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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,

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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