Do you think your daughter is shorter than other children? Are you worried that her body is not changing like other children her age, meaning that she is starting puberty late? Sometimes the cause of these things can be a condition that we don't hear much about, but is very important to know. Today we are talking about one such condition, Turner Syndrome. Being aware of this will help you give your child the best care.
What is Turner Syndrome?
Simply put, our bodies are made up of tiny cells. Each of these cells has a blueprint that determines everything from our shape, height, and skin color. We call this blueprint chromosomes .
Normally, a girl's cell has 23 pairs of these chromosomes. The 23rd pair of chromosomes that determines sex is 'X' and 'X' (XX). This means that a girl has two X chromosomes. However, a girl with Turner syndrome is missing all or part of one of these two X chromosomes.
This is a congenital condition that only affects girls. Not all children with this condition are the same. However, there are two main features that are commonly seen:
1. Short height
2. Ovaries not functioning properly
This condition usually occurs in about one in 2,000 or 2,500 female babies.
What is the reason for this situation?
The first thing to say is that this is not something that is the fault of the mother or the father . It happens completely by chance. That is, when a baby is conceived, there may be a difference in the egg from the mother or the sperm from the father, or there may be a change in the X chromosome during the early stages of development of the baby in the womb. Researchers still don't know exactly what causes this.
There are two main types of this condition.
- Monosomy X: This is the complete absence of one X chromosome. This is the more severe and more symptomatic type.
- Mosaic Turner syndrome: In this condition, some cells in the body have both X chromosomes, but other cells have only one. This can cause some mild symptoms. Sometimes, the condition may not be detected.
What are the symptoms of a child with Turner syndrome?
Some children show symptoms at a young age, while others only notice symptoms when they are a little older. Sometimes the symptoms are very subtle. Therefore, there are times when the condition is discovered even after reaching adulthood. Let's break these symptoms down into several categories.
Is it possible to know before the baby is born?
Yes, sometimes tests done during pregnancy can provide a clue about this.
- The doctor may suspect something during an ultrasound scan: a problem with the baby's heart, kidney problems, or fluid accumulation behind the neck.
- Genetic testing: This condition can be detected through some genetic tests performed during pregnancy.
Symptoms that appear at birth or during childhood
These symptoms don't appear in the same way for everyone, but you can see a few of them.
| Characteristic | Simply a description |
|---|---|
| Changes in the ears | Things like ears being positioned lower than normal, earlobes being thicker, etc. |
| Hair on the back of the neck | Starting below average. |
| Neck shape | Having a short, broad neck. Sometimes a webbed neck can be seen on both sides of the neck. |
| Chin and chest | The lower jaw appears smaller and sunken in. The chest becomes wider and the gap between the nipples increases. |
| Hands and feet | Arms slightly bent outward at the elbow, one finger or toe shorter than the other, flat feet. |
| Nails | Narrowing of the nails on the hands and feet. |
Symptoms seen in childhood, adolescence, and adulthood
These are the characteristics that parents should pay the most attention to.
- Growth failure: Failure to grow tall for age. This usually becomes apparent around the age of 5.
- Lack of a growth spurt: Usually, children have periods of sudden height gain as they grow. These children don't have those periods.
- Delayed or absent puberty: This is one of the main symptoms. Things like breast development and menstruation may occur.
- Low hormone levels: Low levels of sex hormones like estrogen.
- Primary Ovarian Insufficiency: The ovaries are very small. They may stop functioning after a few years, or they may be non-functioning from birth.
- Infertility: Because the ovaries are not functioning, it is not possible to have children naturally.
Remember, not every child will have all of these symptoms. Some children may have many symptoms, while others may have very few. So if you have any concerns about your child, it's best to talk to a doctor .
What other health complications can come with this condition?
Children with Turner syndrome are at increased risk of developing certain other health problems, so it is very important to have regular medical checkups and be vigilant about this.
| Problematic system | Possible medical conditions |
|---|---|
| Heart and blood vessels | Congenital heart disease can occur, especially problems with the main blood vessel (aorta) that carries blood to the body. |
| Skeletal system | Conditions such as osteoporosis, easy bone fractures, and scoliosis. |
| Immune system | Autoimmune diseases can occur when the body's own immune system attacks itself. Examples: Celiac disease, Hashimoto's disease (a problem with the thyroid gland). |
| Ears and eyes | Hearing loss, frequent middle ear infections, blurred vision and crossed eyes. |
| Kidneys | There may be some problems with the kidneys, which can lead to frequent urinary tract infections (UTIs). |
| Learning ability | Although intelligence is generally good, some difficulties may occur in learning. In particular, things like memory and understanding spatial relationships (e.g. driving) may be difficult. |
| Mental health | Living with this condition can lead to psychological problems such as low self-esteem, anxiety, and depression. |
How does a doctor find this?
Turner syndrome can be diagnosed before or after birth.
- Before birth:
- NIPT (Noninvasive prenatal testing): A test that looks for genetic problems in the baby by examining the mother's blood during pregnancy.
- Scan: As mentioned earlier, suspicion may arise based on the features seen on the scan.
- Amniocentesis and CVS: These are confirmatory tests. They involve taking a sample of amniotic fluid or a piece of the placenta and performing a genetic test. These tests are 100% accurate.
- After birth:
- Karyotyping test: This is the most important test. A genetic test that involves taking a small amount of blood. This can accurately determine whether an X chromosome is missing.
What are the treatments for this?
Turner syndrome is not a completely curable disease. However, there are very good treatments that can control the symptoms and help the child live a normal life .
Treatment is mainly hormonal.
- Human growth hormone therapy: These are daily injections. This can help a lot in increasing a child's height. If started at a young age, it can increase a child's final height by just a few inches.
- Estrogen therapy: This is essential for many children with Turner syndrome to reach puberty. It helps with breast development and menstrual cycles. It also helps strengthen bones and improve heart health. This treatment usually continues until menopause.
- Progestin therapy: This is started a few years after estrogen is started. This helps maintain a natural menstrual cycle.
In addition to these treatments, if you have any of the previously mentioned health problems (heart, kidneys), you should also seek treatment from a specialist.
How should I take care of my child?
The most important thing is to diagnose the disease and start treatment early.
Keep an eye on your daughter's growth and milestones. If you think she's not growing as fast as you'd like, or if she's showing any unusual physical signs, talk to your family doctor right away .
The sooner things like hormone therapy are started, the better the results. Also, these children need to have regular medical checkups.
In addition, doctors recommend:
- Screening for learning disabilities: When these are identified at an early age, teachers can be consulted and teaching methods can be introduced to the child's needs.
- Seeking help from a mental health counselor : It is very important to seek help from someone like a child psychologist. This can provide great strength to deal with issues like social problems, low self-esteem, anxiety, and depression.
A child with this condition may have a slightly shorter life expectancy than the average person. However, with proper medical treatment and testing, many can live a normal, full life .
Take-Home Message
- Turner Syndrome is a genetic condition that occurs only in girls.
- This is not anyone's fault, it's a random genetic change.
- The main symptoms are loss of height and ovarian failure, which can lead to delayed puberty.
- Although it cannot be completely cured, hormone therapy and other treatments can help manage symptoms and lead a normal, healthy life.
- If you have any concerns about your child's development or other symptoms, consult your doctor without delay . Early diagnosis is very important for successful treatment.
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