What is Turner Syndrome?

What is Turner Syndrome?

Some genetic syndromes only affect people from one gender. Turner syndrome is one such rare genetic disorder that only affects females. This syndrome occurs when one of the sex chromosomes also known as X chromosomes is partially or completely missing. 99% of the fetuses that have a missing chromosome are normally miscarried.

This condition may be diagnosed prenatally while the fetus is still in the mother’s womb, during infancy or while the child is a young girl. In some cases, the symptoms may be so mild that diagnosis is delayed till when the girl is a teenager or a young adult.

Turner syndrome cannot be cured but with regular medication, appropriate care, and regular checkups, patients can lead a long, comfortable life.

Turner Syndrome Symptoms

Turner syndrome can cause a number of problems ranging from heart defects to short stature. The symptoms appear differently in each patient. Symptoms such as heart defects develop slowly and subtly over time while others like poor growth may be apparent at an early age.

In cases where a turner syndrome is suspected in a fetus, the prenatal ultrasound may show irregularities like the abnormal development of the kidneys and accumulation of fluids. In the case of it being diagnosed at birth, the symptoms may include a wide neck, high palate, and arms that turn outwards at the elbows. The most common signs of this syndrome in teenagers and young adults are short stature and ovarian insufficiency.

Treatment for Turner Syndrome

Girls suffering from this syndrome usually need treatment from multiple specialists. Since the cases vary widely in terms of the symptoms seen, there is no specific form of treatment. Most girls are given growth hormone injections to increase their height and estrogen therapy. Fertility treatment is also usually required for women diagnosed with this condition. Also, for women with this condition pregnancy can pose certain additional risks.