Let's simply learn about Turner Syndrome, which affects your daughter.

Do you sometimes feel that your daughter is shorter than other children? Even though other friends her age have reached puberty, your daughter is still not showing those signs? It is very normal for a mother or father to feel a little scared and worried about things like this. Most of the time, these can be normal things. However, sometimes the reason for this can be a special genetic condition called 'Turner Syndrome' that only affects girls. We don't need to be afraid when we hear this name. Today, we will talk very simply and clearly about what this is, why it happens, and what can be done about it.

Simply put, what is Turner Syndrome?

Turner syndrome is a congenital genetic condition that only affects girls. It is not contagious.

Let's go back to biology to understand this. Simply put, every cell in our body contains 'chromosomes' that determine our genetic information (our height, color, appearance, etc.). Normally, a female cell has two sex chromosomes called X (XX). A male cell has one X and one Y (XY).

Turner syndrome is a condition in which a female child is missing all or part of one of the two X chromosomes. This is a random event that occurs during conception or during the embryonic stage. It is important to remember that this is not due to any fault of the mother or father .

This condition can affect each child differently, but there are two main common symptoms:

1. Being shorter than others (short height)

2. Low-functioning ovaries , which means that puberty and the ability to have children are affected.

What are the symptoms? How do we recognize this?

Some children show these symptoms at birth. For others, the symptoms appear gradually during childhood. Sometimes, this is not suspected until adulthood. Therefore, it is very important to be aware of these symptoms.

Sometimes prenatal tests, such as an ultrasound scan during pregnancy, can give clues. For example, if the baby looks like there is fluid behind their neck, or if there is a problem with their heart or kidneys, doctors may be suspicious.

Are there main types of Turner syndrome?

Yes, there are two main types depending on how this condition occurs.

Monosomy X

This is the most common type. This is where one X chromosome is completely missing from every cell in the child's body. This is usually caused by a random defect in the mother's egg or the father's sperm during conception. Symptoms are usually more pronounced in this type.

Mosaic Turner Syndrome

As the word 'mosaic' implies, this means that only some cells in the child's body have a partial or complete loss of the X chromosome. The other cells have the normal (XX) chromosomes. Think of our body as a wall made of small bricks (cells). In a mosaic condition, only some of the bricks have this difference. The others are normal. This is a random error that occurs during cell division during the embryonic stage. This can cause relatively few symptoms, and it can also be difficult to diagnose.

What other health problems (complications) can occur due to this condition?

Children with Turner syndrome are at increased risk of certain health problems, so it is important to have regular medical checkups.

How does a doctor diagnose this?

A doctor can diagnose this condition before or after the baby is born.

Before birth:

• NIPT (Noninvasive prenatal testing): This is a method of testing the baby's genetic information using a blood sample taken from the pregnant mother.
• Ultrasound scan: This may be suspected if the scan shows signs of problems with the baby's heart, kidneys, or fluid accumulation behind the neck.
• Amniocentesis: This condition can be confirmed 100% by taking a sample of the amniotic fluid surrounding the baby and performing a genetic test (karyotype analysis) on the baby's cells.

After birth:

After the baby is born, if the doctor suspects something is wrong based on the baby's symptoms, they will order a blood test called 'karyotyping.' This involves taking a blood sample and examining the chromosomes under a microscope to determine exactly whether an X chromosome is missing, in whole or in part.

What are the treatments? Can it be completely cured?

First of all, because Turner syndrome is a genetic condition, it cannot be completely cured.

Treatment mainly focuses on hormones.

• Human growth hormone therapy: This treatment is very important to increase the height of the child. This is a hormone injection that is given daily. If this treatment is started at an early age, that is, as soon as it is noticed that the growth is slow, the child will be able to achieve a good height.
• Estrogen therapy: Many girls with Turner syndrome do not produce estrogen naturally, so they are usually given estrogen from outside sources around puberty (around 11-12 years of age). This is what causes the signs of puberty, such as breast development and the onset of menstruation. It is also important for strong bones and heart health.
• Progestin therapy: After a few years of estrogen therapy, a hormone called progestin is also given to maintain the menstrual cycle naturally.

In addition to these hormone treatments, it is essential to seek treatment and regular checkups from relevant specialists for the complications discussed earlier (such as heart disease, kidney problems, and hearing impairment).

When should I talk to the doctor about my child?

It is most important to diagnose the disease and begin treatment as soon as possible.

Keep an eye on your child's growth and milestones. If you think your daughter is significantly shorter than other children her age, or if she is showing any of the physical signs mentioned above, don't delay in talking to your pediatrician.

There are two other important things that doctors recommend:

• Screening for learning disabilities: It is a good idea to pay attention to your child's development as early as possible, perhaps as early as 1-2 years of age, and check for learning disabilities. If there is any, you can also talk to the teachers at school and provide the child with the special support they need.
• Seeking mental health support: It is very important to seek the help of a mental health counselor (child psychologist) to help your child cope with the social problems, low self-esteem, and anxiety that arise when living with this condition.

Although the life expectancy of a child with Turner syndrome may be slightly shorter than that of the general population, with constant medical supervision, timely treatment, and good management of health problems, they can live a completely normal, happy life.

Turner Syndrome, diseases of girls, short stature, puberty, hormone therapy, genetic diseases