Journal of Down Syndrome & Chromosome Abnormalities
Open Access

The Role of Genetic Counseling in Turner Syndrome

Leonard Gibson^{* *}Correspondence: Leonard Gibson, Department of Genetics, The University of New South Wales, Sydney, Australia, Email:

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Description

Turner Syndrome is a rare genetic disorder that affects approximately 1 in 2,500 females. It is caused by the absence of all or part of one of the X chromosomes in females. This can result in a range of physical and developmental abnormalities. In this article, we will explore the symptoms, causes, and treatment options for Turner Syndrome.

Symptoms of turner syndrome

The symptoms of Turner Syndrome can vary greatly from person to person, and some females may have only mild symptoms or no symptoms at all. However, some common physical and developmental abnormalities associated with Turner Syndrome include:

Short stature: Individuals with Turner Syndrome tend to be shorter than average, with an average height of about 4 feet, 8 inches.

Delayed growth and puberty: Girls with Turner Syndrome may experience delayed growth and delayed puberty, which can lead to infertility and other complications.

Heart abnormalities: Approximately 30% of individuals with Turner Syndrome have heart abnormalities, such as aortic coarctation, which is a narrowing of the aorta.

Kidney abnormalities: Individuals with Turner Syndrome may have kidney abnormalities, such as horseshoe kidneys, which is when the two kidneys are fused together.

Hearing loss: Hearing loss is common in individuals with Turner Syndrome, particularly in the higher frequencies.

Learning disabilities: Some girls with Turner Syndrome may have learning disabilities, particularly in math and spatial reasoning.

Social and emotional difficulties: Girls with Turner Syndrome may have social and emotional difficulties, such as shyness or difficulty relating to peers.

Causes of turner syndrome

Turner Syndrome is caused by the absence of all or part of one of the X chromosomes in females. The most common cause of Turner Syndrome is a random error during the formation of the egg or sperm, which results in the missing chromosome. In some cases, Turner Syndrome may be inherited from a parent who has a balanced translocation, which is a rearrangement of genetic material that does not result in any symptoms in the parent. When a parent with a balanced translocation passes on the translocated chromosome to their child, it can result in Turner Syndrome.

Treatment of turner syndrome

There is currently no cure for Turner Syndrome, and treatment options are focused on managing the symptoms of the disorder. For example, growth hormone therapy may be used to help promote growth and increase height in girls with Turner Syndrome. Estrogen therapy may also be used to induce puberty and help prevent osteoporosis. Some girls with Turner Syndrome may also require surgery to correct heart or kidney abnormalities.

Early intervention and special education services may also be beneficial for girls with Turner Syndrome who have learning disabilities or social and emotional difficulties. Genetic counseling may also be recommended for families affected by Turner Syndrome, in order to provide information and support for family planning and prenatal testing.

In conclusion, Turner Syndrome is a rare genetic disorder that can cause a range of physical and developmental abnormalities. While there is no cure for the disorder, early intervention and management of symptoms can improve outcomes for individuals with Turner Syndrome. Genetic counseling may also be recommended for families affected by the disorder, in order to provide information and support for family planning and prenatal testing.