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Turner's Syndrome - Turner's Syndrome symptom, treatment, causes

Turner's Syndrome is a syndrome that affects about 1 in 3000 people and is caused by failure of the X or Y sex gene from the sperm to be transferred at fertilisation to join the single X present in the ovum (egg). This means that there is only a single X sex chromosome in the foetus. Because XX is needed for ovaries to develop and XY for testes development, people with Turner's syndrome have no gonads (ovaries or testes), but they have fallopian tubes, a uterus, a vagina, and female external genitals. There may be associated birth defects such as heart and bone problems, webbing of the neck Un which folds of skin extend from behind the ears towards the shoulder-tips), and growth retardation resulting in short stature.

Without ovaries to produce oestrogen, none of the characteristic female developments of puberty can take place. If Turner's syndrome is diagnosed by finding abnormal genes ana no ovaries (and therefore no ovarian hormones), hormone replacement therapy must be given to complete development and maintain health during adult life. If a woman without ovaries has a normal uterus and vagina. menstruation will follow hormone treatment.

Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common. Turner syndrome (45,X) is a genetic disorder that occurs only in females and arises from partial or complete absence of the X chromosome. H.H.Turner first described Turner syndrome in 1938 and the chromosomal basis of this syndrome was established in 1959 by Ford. Turner syndrome occurs in 1 in 2500 female births. Girls with Turner syndrome are usually short in height. Girls with Turner syndrome who aren't treated reach an average height of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome is diagnosed while a girl is still growing, she can be treated with hormones to help her grow taller. In addition to growth problems, Turner syndrome prevents the ovaries from developing properly, which affects a girl's sexual development. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with Turner syndrome will not go through all of the changes associated with puberty unless they get treatment for the condition. Nearly all girls with Turner syndrome will be infertile, or unable to become pregnant on their own.

Turner syndrome is a genetic condition that occurs only in females. There are a variety of signs and symptoms that can result, but the most common are short height, lack of developing ovaries, and infertility. The effects and severity of the condition vary widely, depending on the degree of chromosomal abnormality. Turner's syndrome affects approximately one in 2,000 female babies born. However, the occurrence of this abnormality before birth may mean it is more common than generally thought; it has been estimated that only one per cent of foetuses with this abnormality survive to term and as many as 10 percent of miscarriages have this chromosomal abnormality.

Causes of Turner's Syndrome

The common Causes of Turner's Syndrome :

• In patients with a single X chromosome, the chromosome is of maternal origin in two thirds of cases.
• Many of the features of Turner syndrome, including the short stature, are due to the lack of a second SHOX gene, which is on the X chromosome.
• Advanced maternal age is not associated with an increased incidence.

Symptoms of Turner's Syndrome

Some common Symptoms of Turner's Syndrome :

• Short stature.
• Reproductive sterility.
• Infertility.
• Broad chest ( shield chest ) and widely-spaced nipples.
• Dry eyes.
• Low-set ears.
• Amenorrhea , or the absence of a menstrual period.
• Drooping eyelids.
• Absent normal moisture in vagina; painful intercourse.

Treatment of Turner's Syndrome

• Estrogen therapy is often started at 12 or 13 years old to stimulate the development of breasts, pubic hair, and other sexual characteristics.
• Donor egg programs are available for women with Turner syndrome who wish to become pregnant.
• Growth hormone may be considered to help a child with Turner syndrome grow taller.
• Treatment for the management of complications such as high blood pressure .
• Surgery to correct any heart defects
• Regular follow-up and management of medical conditions .
• Hormone replacement therapy to trigger menstruation and the development of secondary sexual characteristics such as breasts .