Turner Syndrome: Symptoms, Causes, Diagnosis, and Treatment

What is Turner Syndrome?

Turner syndrome is a genetic disorder in women that causes sufferers to be short in stature and have impaired fertility. Turner syndrome is a rare genetic disorder that only occurs in 1 in every 2,500 births of a baby girl.

Turner syndrome is caused by a genetic disorder resulting from the partial or complete loss of the X chromosome in women. This genetic disorder is not inherited and the cause is not yet known.

Turner syndrome symptoms

Turner syndrome is characterized by a slow growth rate since the child is 3 years old. Therefore, the height of people with Turner syndrome will be shorter than that of women of their age.

People with Turner syndrome will also get their first menstruation too late, due to a lack of se**xual hormones. The condition can make it difficult for people with Turner syndrome to have children, if not given treatment.

Turner syndrome risk factors

Since Turner syndrome is a chromosomal disorder caused by genetic factors, to date the factors that increase its risk have not been found. This is due to the uniqueness of the shape of each person’s chromosome alignment will be different. In addition, Turner syndrome occurs randomly and is not genetically inherited.

What Causes Turner Syndrome?

The normal chromosomal arrangement in females, which is 46XX. However, one of the X chromosomes will be damaged or damaged in people with Turner syndrome. Genetic alterations in Turner syndrome include:

1. Monosomy

The loss of 1 X chromosome usually occurs due to damage to the spe**rm or ovum, so that each cell in the sufferer’s body has only one X chromosome.

2. Mosaicism

The problem occurs when cell division is at the beginning of fetal development, that is, some cells have 2 X chromosomes as in normal, while some other cells only have 1 X chromosome.

3. X Chromosome Abnormalities

Sometimes a deficiency or defect is found on the X chromosome. In addition, this condition can also be caused by problems when cell division, so that only some cells have an abnormal X chromosome while other cells have both normal X chromosomes.

4. Y Chromosome Material

In a few cases, some cells have 1 X chromosome and other cells have 1 X chromosome and Y chromosome material, which should not be present at all in the cells of the female body.

All of these conditions occur randomly and are not genetically inherited.

Turner syndrome diagnosis

The doctor will diagnose Turner syndrome based on the signs and symptoms, including the appearance of the child, and perform several tests to confirm the diagnosis.

A common test, which is a karyotype test that is done by taking a blood sample to find out if there is a change in the X chromosome or one missing X chromosome.

Other tests may be required to check for other diseases, such as heart or kidney disease, that occur due to Turner syndrome.

Turner syndrome treatment

Growth hormone therapy is the main treatment to help overcome this syndrome.

This treatment can help increase the child’s height as much as possible in childhood to early adolescence.

In addition to growth hormone, estrogen therapy is also commonly administered to improve breast development and trigger the start of menstruation.

This therapy can also help the growth of the uterus as well as improve the child’s brain development and other organ functions, such as the heart, liver, and bones.

Other types of treatment will also be given by the doctor depending on the medical problems that you or your child suffers from, for example heart or kidney problems.

Various medical teams who are experts on this issue will help you to choose the best treatment. They include genetic specialists in chromosomal and endocrinological problems for treating hormones.

How to care for a child with Turner syndrome?

Caring for a child with Turner syndrome is not easy. However, you can help the child to stay healthy and be able to carry out her daily activities with proper care.

Here are tips for caring for a child with Turner syndrome that you can practice.

• Perform treatment early, such as growth hormone therapy. Starting treatment early can increase a child’s height and bone growth.
• Pay attention to the health condition to find out if there are other medical problems that arise, for example heart disease in children.
• Make sure the child gets screened as early as possible to find out what learning disorders in the child may occur. Teachers and parents can work together to help the child overcome the problem, follow guidance, or occupational therapy for the child.
• Treat her according to her age, not her size.
• Arrange the house in such a way, so that the child is comfortable. For example, using a chair that has steps so that children can sit comfortably even though their legs cannot reach the floor.
• Encourage the child to do activities that are in accordance with the condition of her body, such as swimming that is beneficial for the child.
• Work closely with a mental health professional if the child is depressed, self-esteem issues, or other psychological disorders.
• Feed a healthy diet to the child.