What is Turner's Syndrome?

health wellness

Turner's syndrome is a condition that affects approximately one in 200 females. The condition does not affect men. Turner's syndrome occurs when both of the X chromosomes normally found in women are missing. Chromosomes are the deoxyribonucleic acid (DNA) strands found in every cell in the body. In Turner's syndrome, the X chromosomes may be completely missing or only partially present.

If the X chromosomes are completely missing, the condition is medically designated as Classic Turner's Syndrome. The most common symptoms of Classic Turner's syndrome include physical shortness and infertility due to non-development of the ovaries. The symptoms of Turner's syndrome vary from female to female. They can include a very low hairline, a webbed neck, a wide chest with nipples that are spaced far apart, and low set ears. Other symptoms may include swollen looking hands and feet and the appearance of a variety of small birthmarks.

Women who suffer from Turner's syndrome may also develop a number of internal organ irregularities. These can include kidney and heart disorders, problems with the thyroid gland, and bone disorders. There may also be a chance of hearing and vision impairment.

In another form of Turner's syndrome, called Mosaic Turner's syndrome, only certain cells in the body are missing the X chromosomes. With Mosaic Turner's syndrome, there may be very few symptoms or none at all. Infertility may not be present in this form of the condition. Older women with Turner's syndrome are at increased risk of developing diabetes.

Diagnosis of Turner's syndrome is dependent on the symptoms present. The condition is usually diagnosed during childhood. Turner's syndrome can be detected while the baby is still developing in the womb. Diagnosis is usually confirmed through a blood test called a karyotype, in which the composition of the chromosomes is analyzed.

Treatment of Turner's syndrome usually begins during childhood. A pediatric endocrinologist, who specializes in hormones and the metabolism, must be consulted. Around the age of five, many girls are given hormone injections to combat the symptom of physical shortness. Anabolic steroids may also be proscribed to combat this problem.

At around the age of puberty, girls may undergo estrogen replacement therapy. This hormone, along with progesterone, is given to start breast development and induce monthly periods. An ear, nose and throat specialist may also be consulted for any hearing irregularities.

Women who suffer from Turner's syndrome must have regular medical checkups throughout their lives. Although most sufferers are infertile, there is often the possibility of pregnancy using donor embryos. Sufferers are able to lead as normal a life as possible despite their condition.

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