What is Turner's Syndrome?

Turner's syndrome is a condition that affects approximately one in 2,000 females. The condition does not affect men, but they can have a similar condition called Noonan syndrome that is often mistakenly referred to as Turner's syndrome. Turner's occurs when one of the X chromosomes normally found in women is missing, or one or both are damaged. Chromosomes are the deoxyribonucleic acid (DNA) strands found in every cell in the body.

If one X chromosome is 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. Though the symptoms of this condition 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 affected by this condition 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 this syndrome called Mosaic Turner's syndrome, only certain cells in the body are missing the X chromosomes. With this form of Turner's, 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 are at increased risk of developing diabetes.

Diagnosis of Turner's depends on the symptoms present. The condition is usually diagnosed during childhood, but can also 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 have Turner's 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's syndrome are able to lead as normal a life as possible despite their condition.