What Is Turner Syndrome?

By Hong Winston


Essentially, Turner syndrome is a physical anomaly. It only affects females. And while Turner syndrome can present a multitude of challenges for a woman, there is no reason she cannot live as rich a life as anyone else. With the help of a donated embryo, it is possible for some women with Turner Syndrome to have children. Classic characteristics of women with Turner Syndrome include a diminished stature and non-functioning ovaries.

Specifically, Turner Syndrome affects the SHOX gene on the X chromosome, although research is expected to eventually identify other genes affected by Turner Syndrome. The SHOX gene is probably the cause of the shorten statue and other bone anomalies of Turner Syndrome women.

Other physical anomalies might include a low hairline, a broad torso with nipples widely spaced, arms turned out a little at the elbows, heart irregularities, a predisposition for high blood pressure, vision problems, deformity of the spine, an under active thyroid, a higher than average risk of diabetes and weak bones. Many of these conditions can be readily treated with hormone and other therapies. Woman with Turner syndrome also suffer a higher than usual rate of ear infections which can lead to hearing loss if not treated aggressively.

There is a blood test for Turner Syndrome and an unborn child can be tested if the attending doctor thinks this is needed. However, usually the initial diagnosis of Turner Syndrome is made at birth when the classic Turner Syndrome physical anomalies are first observed by hospital staff.

It's important to realize that Turner Syndrome has no impact on IQ, verbal skills or reading comprehension, but some girls might test below average for math ability, memory and finger dexterity. Also, a woman with Turner Syndrome will typically have a fully formed uterus and genitalia.

In a woman without Turner Syndrome the ovaries begin to produce estrogen and progesterone at puberty. This does not happen in young women with Turner. Obvious signs that the ovaries are not functioning properly is the lack of monthly menstruation and the failure of the breasts to develop as the young woman comes of age. Both of these anomalies respond well to estrogen treatment.

Although Turner Syndrome can cause some striking physical anomalies, it does not impact IQ, verbal skills or reading. However, in some cases a girl with Turner might exhibit a below average ability in math, memory skills and finger dexterity. Also, the genitalia and uterus are usually fully formed and normal.

Treatment and management of Turner Syndrome includes the administration of growth hormone in early childhood. The early administration of growth hormone insures that the girl will fully exploit all growth potential her body will permit. At around the age of 12, estrogen replacement therapy is encouraged so the young woman will develop breasts. A short time later, estrogen combined with progesterone is encouraged to initiate menstruation which is essential to keep the uterus healthy. Estrogen also prevents weakening of the bones, a classic concern among women with Turner Syndrome.




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By Hong Winston


Essentially, Turner syndrome is a physical anomaly. It only affects females. And while Turner syndrome can present a multitude of challenges for a woman, there is no reason she cannot live as rich a life as anyone else. With the help of a donated embryo, it is possible for some women with Turner Syndrome to have children. Classic characteristics of women with Turner Syndrome include a diminished stature and non-functioning ovaries.

Specifically, Turner Syndrome affects the SHOX gene on the X chromosome, although research is expected to eventually identify other genes affected by Turner Syndrome. The SHOX gene is probably the cause of the shorten statue and other bone anomalies of Turner Syndrome women.

Other physical anomalies might include a low hairline, a broad torso with nipples widely spaced, arms turned out a little at the elbows, heart irregularities, a predisposition for high blood pressure, vision problems, deformity of the spine, an under active thyroid, a higher than average risk of diabetes and weak bones. Many of these conditions can be readily treated with hormone and other therapies. Woman with Turner syndrome also suffer a higher than usual rate of ear infections which can lead to hearing loss if not treated aggressively.

There is a blood test for Turner Syndrome and an unborn child can be tested if the attending doctor thinks this is needed. However, usually the initial diagnosis of Turner Syndrome is made at birth when the classic Turner Syndrome physical anomalies are first observed by hospital staff.

It's important to realize that Turner Syndrome has no impact on IQ, verbal skills or reading comprehension, but some girls might test below average for math ability, memory and finger dexterity. Also, a woman with Turner Syndrome will typically have a fully formed uterus and genitalia.

In a woman without Turner Syndrome the ovaries begin to produce estrogen and progesterone at puberty. This does not happen in young women with Turner. Obvious signs that the ovaries are not functioning properly is the lack of monthly menstruation and the failure of the breasts to develop as the young woman comes of age. Both of these anomalies respond well to estrogen treatment.

Although Turner Syndrome can cause some striking physical anomalies, it does not impact IQ, verbal skills or reading. However, in some cases a girl with Turner might exhibit a below average ability in math, memory skills and finger dexterity. Also, the genitalia and uterus are usually fully formed and normal.

Treatment and management of Turner Syndrome includes the administration of growth hormone in early childhood. The early administration of growth hormone insures that the girl will fully exploit all growth potential her body will permit. At around the age of 12, estrogen replacement therapy is encouraged so the young woman will develop breasts. A short time later, estrogen combined with progesterone is encouraged to initiate menstruation which is essential to keep the uterus healthy. Estrogen also prevents weakening of the bones, a classic concern among women with Turner Syndrome.




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