Turner syndrome affects 1 in 2,000 women, caused by a missing or damaged X chromosome. Symptoms include short stature, infertility, and internal organ irregularities. Diagnosis is confirmed through a karyotype blood test. Treatment includes hormone injections and estrogen replacement therapy. Regular medical checkups are necessary, and pregnancy using donor embryos is possible.
Turner syndrome is a condition that affects about one in 2,000 women. The condition does not affect men, but they can have a similar condition called Noonan syndrome which is often incorrectly referred to as Turner syndrome. Turner syndrome occurs when one of the X chromosomes normally found in women is missing or one or both are damaged. Chromosomes are the strands of deoxyribonucleic acid (DNA) found in every cell in the body.
If an X chromosome is completely absent, the condition is medically designated as classic Turner syndrome. The most common symptoms of classic Turner syndrome include physical shortness and infertility due to the failure of the ovaries to develop. While the symptoms of this condition vary from female to female, they can include a very low hairline, webbed neck, broad chest with widely spaced nipples, and low-set ears. Other symptoms may include swollen hands and feet and the appearance of a variety of small birthmarks.
Women affected by this condition can 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 the possibility of hearing and vision problems.
In another form of this syndrome called Mosaic Turner syndrome, only some cells in the body are missing X chromosomes. With this form of Turner, there may be very few or no symptoms. Infertility may not be present in this form of the condition. Older women with Turner’s are at higher risk of developing diabetes.
Turner’s diagnosis depends on the symptoms present. The condition is usually diagnosed in infancy, but can also be detected while the baby is still developing in the womb. The diagnosis is usually confirmed through a blood test called a karyotype, in which the composition of the chromosomes is analyzed.
Treatment of Turner syndrome usually begins in childhood. A pediatric endocrinologist, who specializes in hormones and metabolism, should be consulted. Around the age of five, many girls are given hormone injections to combat the symptom of lack of body. Anabolic steroids can also be banned to combat this problem.
Around the age of puberty, girls can undergo estrogen replacement therapy. This hormone, along with progesterone, is administered to initiate breast development and induce the menstrual cycle. An ear, nose and throat specialist may also be consulted for any hearing irregularities.
Women who have Turner syndrome must have regular medical checkups throughout their lives. Although most women with this condition are infertile, there is often the possibility of pregnancy using donor embryos. Those with Turner syndrome are able to lead as normal a life as possible despite their condition.
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