Naturally occurring conditions are inevitable. Several genetic syndromes occur early during conception and cannot be cured.
Turner Syndrome is such a condition in which the female baby has only one complete X chromosome and lacks the other X completely or partially.
About 1 in every 2500 females are born with this syndrome around the world. The cause of this syndrome is unknown but diagnosing it can be done pretty early.
Early diagnosis helps you to prepare yourself to face the condition and go for proper treatments accordingly.
How Early Can Turner Syndrome Be Detected?
Turner syndrome can be detected in the early stage of fetal development itself. There are two methods to find out the syndrome in the pre-natal stage and there are many symptoms that express themselves during puberty. Let us discuss the diagnosis methods.
In prenatal diagnosis, chromosomes are tested to confirm the abnormality in the chromosomes. The testing of chromosomes is known as karyotyping and it is done in two ways:
Amniocentesis – It is the testing of amniotic fluid after 14 weeks of pregnancy. The test involves drawing some amniotic fluid from the mother’s womb and karyotyping it. The fluid contains a number of cells from the fetus and shows the genetic material. This helps in confirming the condition.
Chorionic Villus Sampling – This method involves karyotyping a small piece of the developing placenta during 11 to 14 weeks of pregnancy. The placenta also has cells from the fetus which gives us a clear picture of the genetic material.
If the fetus has started to develop organs, there might be some abnormalities in the development when it is affected by the syndrome.
This can be found using a simple ultrasound test where the fetus shows abnormal growth in the organs like the heart. When the doctor suspects such abnormality, a karyotyping will confirm the condition.
After Childbirth Diagnosis
Children affected with Turner syndrome will be affected with Lymphoedema which is a condition that causes swelling of the tissues.
This is also evident during an ultrasound scan during the final weeks of pregnancy.
But most of the time, the swelling drains and gets cured on its own after the child is born.
The child may also show some signs of heart or kidney problems after birth and it is also a sign of possible turner syndrome.
Karyotyping can also be done by drawing the child’s blood to confirm the condition.
Early Childhood Diagnosis
Here are some of the typical characteristics you can find in girl children affected with this syndrome:
- Slow growth rate
- Short in height
- Webbed Neck
- Broad chest
- Wide nipples
These are some of the early childhood characters shown by children with turners. You may not find this in every girl child affected with this condition. Rather some girls show the characters only after puberty.
If the girl has turner syndrome, she might not have her periods when puberty hits. Also, secondary sexual characteristics such as breast development are not evident in them. This is also a sign that confirms the condition.
These are some of the ways and stages in which turner syndrome can be diagnosed in girl children.
How to Treat Turner Syndrome?
There are no cures for turner syndrome at present. But there are some treatments in allopathy to regulate the hormones and their secretions.
Here are some of the general treatments done for patients suffering from this syndrome:
- Growth Hormone Therapy to induce overall growth and height
- Estrogen Therapy to develop breasts and other secondary sexual characteristics.
- Progesterone to regulate the monthly menstrual cycle
- Other medications to regulate blood pressure, sugar, and other organ problems.
Hormone Replacement Therapy
Since there is no complete cure, you have to depend on hormone replacement therapies and drugs to ensure the sexual functionalities of the women.
The two major female hormones, estrogen and progesterone is injected manually to the patients at regular intervals to keep their menstrual cycle and other secondary sexual characters alive.
Usually, estrogen is periodically given around 11 years when puberty naturally hits for normal women. Estrogen also helps in maintaining bone density.
Progesterone is prescribed a few months after estrogen is injected. It will help them to get their menstrual cycle like regular women.
Both the hormones are available as tablets, gel, or patches. It is also available in injections according to the dosage required.
Apart from allopathic treatments, you can follow a healthy diet, exercise routine, and a compulsory night sleep routine to avoid any other diseases and illnesses.
Some children may have hearing problems that can be treated with hearing aids. Also, they are prone to frequent middle ear infections which must be treated.
You may also consult a gynecologist, psychologist, and geneticist for additional help and treatment-related queries.
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What Age does Turner Syndrome Affect?
Turner syndrome shows its effect in early childhood. You can witness poor growth or reduced growth in the child.
Around the age of 8 to 10 years, you can find abnormal stature, webbed neck, broad chest, and abnormal nipples.
Then during puberty, you will find delay or absence of menstruation. Some girls may experience an abnormal menstrual cycle but usually, it is absent in most of the patients.
Since the condition can be found as early as prenatal, you have enough time to prepare yourself mentally on how to deal with the condition.
When it is not evident during childhood, the condition will expose itself at puberty and you will be able to identify the problem then.
Therefore, the age at which the condition takes effect differs for each patient. But these are the symptoms you have to look for and consult a medical professional immediately for any assistance.
Every human being born is unique. These naturally occurring genetic disorders should not be considered as a disease or physically disabled.
They are also part of this nature and must be taken care of like any other being in this world.
Turner syndrome affects only female children and it is also quite rare. But if your doctor suspects any abnormalities, take heed of the situation and do whatever is necessary.