What is Turner Syndrome?

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When a person has Turner syndrome, the X chromosome is missing. This causes a person to have a higher risk of developing heart disease, high blood pressure, and blood vessel disease. Some people also experience hearing loss. This can be caused by a gradual loss of nerve function or frequent middle ear infections. Other symptoms of this disorder include vision problems, nearsightedness, and strabismus. Kidney malformations may also occur.

The x chromosome is missing in Turner syndrome.

Turner syndrome is a disorder where a person’s X chromosome is missing. It can be caused by several factors, including problems with the father’s sperm or the mother’s egg or even during early fetal development. However, the chances of developing the disorder are meagre, and family history does not make the condition more likely. A doctor can determine if a person has the disorder by testing for an abnormal X chromosome or performing a karyotype blood test.

People with Turner syndrome are female and can suffer from short stature, heart defects, and other issues. The symptoms are usually mild when the affected person is still young but can persist throughout life. However, treatments can help people with Turner syndrome manage their condition. The X chromosome is missing in girls with Turner syndrome, so the girl will not be able to have a child.

Intellectual disability

Researchers have found an increased attention deficit hyperactivity disorder, schizophrenia, and depression among Turner syndrome patients. The underlying mechanism for this association remains unclear. However, the skewed X chromosome inactivation centre is thought to confer susceptibility to psychiatric disorders.

While most people with Turner syndrome have average intelligence, the condition can cause learning disabilities. These symptoms can include difficulty with visual-spatial relationships (right-left disorientation), math, and executive functions. Additionally, affected individuals may have problems with attention and memory.

Osteoporosis

Treatment of osteoporosis and Turner syndrome involves a combination of treatments, including calcium, vitamin D, and ongoing sex hormone therapy. The first visit for an adult with osteoporosis and Turner syndrome should include a dual-energy x-ray absorptiometry scan. A high-quality echocardiogram or MRI of the aorta is also recommended. This can help detect severe aortic dilatation.

Osteoporosis and Turner syndrome are often mistaken for each other. Although the two conditions may have similar symptoms, women with Turner syndrome risk significantly reduced fractures. This is mainly because women with Turner syndrome often have low bone mineral density, whereas women without the syndrome are likely to have higher bone density.

Bicuspid aortic valve

The bicuspid aortic valve is one of the most common heart defects in people with Turner syndrome. The condition affects one in every 2,500 live births. In addition, it is associated with several congenital cardiovascular abnormalities, including the bicuspid aortic valve and coarctation of the aorta. As a result, patients with this condition are at high risk of premature cardiovascular death and ischemic heart disease.

To monitor the condition, doctors should use cardiac MRI, a non-invasive, nonirradiated test. However, only a few studies have evaluated the use of cardiac MRI in children and adults with Turner syndrome.

Early loss of ovarian function

Early loss of ovarian function in Turner syndrome occurs because of a deficiency in the production of sex hormones. These hormones are necessary for puberty and the development of secondary sexual characteristics. In most women with Turner syndrome, hormone replacement therapy will be necessary to treat ovarian failure. However, sometimes, a woman may start developing breasts without treatment.

Fertility preservation in young women with Turner syndrome has been controversial. Some experts advocate freezing ovarian tissue early, while others discourage this practice. This disagreement is due to different perspectives. While biologists prefer freezing young ovaries with a high follicle density, reproductive physicians prefer to avoid risky operations. In addition, obstetricians and cardiologists warn against the risks of pregnancy after freezing ovaries. Therefore, this issue must be addressed in a balanced fashion.