Turner’s syndrome is due to the lack of a small portion of the genetic mass. This means, among other things, that the baby grows slower than expected and that the ovaries do not function properly. The heart can also be affected, sometimes severely. But the symptoms vary and can be variously strong. The treatment depends on the symptoms and often consists of hormones.
This text is mainly about children who have Turner syndrome. But much of what is here also applies to you who are an adult and have Turner syndrome.
What is Turner’s Syndrome?
The body consists of cells . In the cell nucleus, there are usually 46 chromosomes. Two of them are so-called sex chromosomes that control which sex hormones are formed. Turner’s syndrome lacks all or part of one sex chromosome.
Only children born as girls can have Turner syndrome.
Sometimes Turner’s syndrome is already discovered at birth, sometimes it is only noticed when the child is between six and eight years, or in his teens. It also happens that adults are diagnosed when they have difficulty getting pregnant.
Most have few and less prominent symptoms, but sometimes they can be noticed more. No child gets all the symptoms described below, but they vary greatly from child to child.
The child grows slowly
The most common and clearest symptom is that the child grows slowly. The child is therefore shorter than expected, compared to his genetic family.
A child who has not been treated with growth hormone will, as an adult, be approximately 20 cm shorter than the expected length , taking into account the length of the genetic parents.
Puberty is affected
The ovaries often age prematurely with Turner’s syndrome. This means that they produce too little or no estrogen at all when puberty should start. Usually puberty does not start properly, and the teenager does not receive menstruation either .
Congenital heart defect
Children with Turner syndrome can be born with heart failure . This means that there are malformations in the heart or in the large blood vessels.
Heart failure can sometimes be severe even when the baby is newborn, or become serious when the baby is growing or if the heart is under stress. Pregnancy and childbirth, for example, entails a great stress on the heart.
In the Complications chapter you can read more about what heart failure can lead to. The chapter is further down in the text.
Higher blood pressure
The congenital heart defect can cause the child to have elevated blood pressure . High block pressure can also develop without a congenital heart defect. It can happen in both adults and children.
More ear infections
Some children with Turner’s syndrome often get ear infections and need to see an ear doctor regularly.
Ear organs can also age prematurely with Turner’s syndrome. It can make hearing loss worse when the child is in his upper teens or older.
There is no link between having many ear infections and ear organs prematurely.
May have difficulty eating as a newborn
A newborn baby with Turner’s syndrome may have difficulty sucking in the first few months after birth. It becomes easier to eat when the baby starts eating solid food.
Teeth may have difficulty growing properly
The baby can be born with a narrow palate or a small lower jaw. It can cause the teeth to become crowded, especially as the larger permanent teeth emerge . It is usually the pediatric dentist who discovers that it is tight for the teeth.
A narrow palate or a small lower jaw probably does not affect the child’s ability to suck.
Congenital malformation of the urinary tract
The child may have congenital malformations of the urinary tract and kidneys, but they rarely lead to any problems.
Can be difficult to interpret the impression of mind
Turner’s syndrome does not affect intelligence, but can cause problems with what is called perception. It is how the brain receives, interprets and processes mental impressions.
For example, it may prove that the child or adult has difficulty with the following:
- Understanding and interpreting other people’s facial expressions and body language.
- Space perception, like orienting yourself geographically.
- Motorism and coordinating movements.
The child may have visible symptoms when they are born
Most often it does not appear if anyone has Turner syndrome. But sometimes a baby can be born with swollen hands and backbones. The swelling usually disappears by itself within a few months. A child can also be born with a slightly wider neck and chest.
Increased risk of certain diseases
There is an increased risk of getting certain diseases from Turner’s syndrome:
- Deficiency of thyroid hormone, called hypothyroidism .
- Excess thyroid hormone, but it’s not that common. Having too much of the thyroid hormone is called hyperthyroidism .
- Hypersensitivity to gluten, so-called celiac disease .
- Osteoporosis when the child becomes an adult, although it is unusual. This is mainly the case if estrogen treatment is not administered or if it is terminated prematurely.
- Elevated blood sugar level and type 2 diabetes in adults with Turner syndrome, especially if you are overweight .
- Scoliosis , which means that the spine is crooked.
- Pain in the joints, but it is unusual to have a lot of trouble with the joints.
Most diseases can develop regardless of age, but some develop almost exclusively in adults.
When and where should I seek care?
If you think your child has Turner syndrome, contact a child care center, school health care or pediatric clinic.
If you are an adult and think you have Turner syndrome yourself, contact a health care provider.
You can contact many receptions by logging in .
The child may have a blood test if the doctor suspects Turner’s syndrome. The blood sample is analyzed, among other things, to see what the chromosomes look like.
Other investigations are:
- The child is weighed and measured, and growth is compared with a so-called growth curve .
- A doctor does a body examination . This means that the doctor listens to the baby’s heart and lungs, and feels on the stomach.
- The doctor also measures the baby’s blood pressure .
Blood tests in pregnant women may show possible chromosome abnormality
Sometimes a pregnant person can submit a blood test called NIPT . It can show the likelihood of whether the fetus has chromosome abnormalities that may pose an increased risk of Turner’s syndrome. The child is then carefully examined after birth, among other things, the child may submit blood tests for chromosome analysis.
Getting the message that your child has Turner syndrome can be experienced as a relief, as it can explain various problems the child has had. But it can also be overwhelming, because Turner’s syndrome is something the child has throughout his life and because there is an increased risk of certain diseases.
It is important to get a diagnosis as it is the basis for getting the right treatment. When you and your child know about the diagnosis, you and the doctor also know what to pay special attention to. Then it is faster to cure or treat the diseases that may occur.
Careful examination after diagnosis
The child is carefully examined after being diagnosed, regardless of the child’s age. It is to find out how much the organs have been affected, if the child needs treatment and what needs to be checked again. The studies also make it possible to detect any diseases that may develop.
What is being done include the following:
- Blood tests are taken, among other things, to measure the levels of hormones in the blood.
- The heart is examined with ECG and with ultrasound and sometimes also with magnetic camera .
- Kidneys are examined with ultrasound.
- The vision is examined with a visual examination .
- The skeleton is sometimes examined with x-rays , especially in children.
- Hearing is examined by hearing examination .
- The teeth and the bite are examined by a dentist .
The child will continue to be examined regularly, even as an adult. Then, especially the heart, the large blood vessels, the thyroid and the estrogen content in the blood are checked.
It is important to keep in touch with health care and to have health checks throughout your life.
The child receives care at a children’s clinic
Until the child is 18, the child will receive care at a children’s clinic or at a so-called Turner Center. At the children’s clinic and the Turner Center, people from different occupational categories and with different specialist skills work together.
You will have regular contact with the health care staff at the children’s clinic or at the Turner Center.
Good to know a lot about his condition
The child receives information as the child matures and understands more. It is good if the child is told as early as possible why she is being examined and receiving treatment. For example, health care professionals can help tell what Turner syndrome means and what happens during treatment. They can also answer questions, and provide advice and support.
When the teen has turned 18, medical responsibility is transferred to clinics that care for adults. This means that the adult is allowed to visit different specialists and clinics, unlike before when she received most of the care at the same reception.
As an adult, you are responsible for making sure that your visits to the health care are lost. It is therefore good to know a great deal about Turner’s syndrome, how it affects one’s own body, and when and where to seek care.
A child may not need treatment, at least not in the first few years after diagnosis if the child is diagnosed as a newborn. It depends on which and how many symptoms the child has. Sometimes, even treatment as an adult may not be needed. However, it is important to continue having regular doctor’s visits and health checks throughout your life.
Treatment with growth hormone
Children with Turner syndrome are often treated with growth hormone, as it is common for the child to grow slowly.
Treatment ends when the body no longer grows, which is when puberty development is complete. This applies whether or not the child has received sex hormones for puberty, or not.
Treatment with sex hormones estrogen and progesterone
The children who need hormone therapy for the body to undergo puberty development get estrogen and eventually also progesterone. The treatment with estrogen and progesterone replaces the sex hormones that the body does not produce itself.
Treatment begins when the child is of an age when puberty usually begins. The treatment causes the body to develop as it should and the teen also gets menstrual bleeding.
Treatment with estrogen and progesterone continues until you are between 50 and 60 years. It is important to continue treatment with estrogen and progesterone as an adult. It reduces the risk of cardiovascular disease, and to get osteoporosis. When the treatment is finished, you enter the menopause .
Deficiency or excess of thyroid hormone
Deficiency of thyroid hormone is treated with drugs that replace the hormone.
An overproduction of thyroid hormone is also treated with drugs , but a drug that reduces thyroid production. The thyroid gland may also need surgery or radioactive iodine treatment.
Ear inflammation and hearing impairment
The child may have a tube implanted in the eardrum if the child often has ear infections. The inoperative tube may reduce the number of ear infections and antibiotic treatments.
Hearing can be impaired even when in upper teens. This is because the auditory organs age earlier in Turner’s syndrome, and not the ear inflammation. Then hearing aids may be needed.
Elevated blood sugar levels and type 2 diabetes
There is a lot you can do yourself to affect your blood sugar value. In the article Diabetes type 2 you can read more about what you as an adult can do to reduce the risk of high blood sugar value. You may need treatment with blood sugar lowering drugs if it does not help.
It is very uncommon for children and adolescents to have elevated blood sugar levels due to type 2 diabetes.
In order to avoid osteoporosis , it is important to continue its treatment with estrogen, even after puberty. It is also good to exercise because it counteracts osteoporosis.
Congenital heart defect and problems with the large arterial artery
The most common congenital heart defect is that the heart has two flaps where the heart passes into the large body pulmonary artery. Usually there will be three flaps. The flaps prevent the blood from being pumped in the wrong direction. The child gets no symptoms, but the risk of complications increases the older the person becomes.
Children can get complications as they get older, even if they are born with a healthy heart and healthy blood vessels. This is why a doctor regularly checks the heart and the large blood vessels, to detect in time if anything deteriorates. Controls can take a long time, but it is important that they are done regularly.
The child or adult may be given medication or need surgery if the heart or blood vessels have deteriorated. The heart and blood vessels are also checked more often then.
The most serious thing with Turner’s syndrome is congenital heart failure and having problems with the large body artery. The large body pulmonary artery is also called the aorta.
What can happen is the following:
- Congestion of large body pulmonary arteries , which increases the load on the heart. The child or adult may then sometimes need surgery immediately when the narrowing is detected. The constriction then needs to be controlled throughout life, whether it has been operated or not. Another name for narrowing of the large arterial artery is the coarctatio aortae.
- Aortic aneurysm, which means that the walls of the large body artery are weakened. As a result, the body’s pulmonary artery is widened within an area. The large body pulmonary artery can burst, which can be life threatening. It is uncommon for it to fail, especially in children. The risk increases the older you get.
- Aortic dissection. This means that the inner wall of the large coronary artery has loosened and obstructed blood flow, which is a life-threatening condition.
Turner’s syndrome and pregnancy
A person with Turner’s syndrome can have a pregnancy and have children, although this is less common. However, a pregnancy and childbirth entails a great strain on the heart, which can be a very serious condition.
Therefore, before deciding on a planned pregnancy, it is important that the heart is carefully examined and to discuss what a pregnancy and childbirth means to the body. Depending on what the study shows, it may sometimes be necessary to abstain from pregnancy.
Most people with Turner syndrome need help to get pregnant. There are two possibilities today:
- Through egg donation and test tube fertilization, so-called IVF .
- Teens and young people with Turner’s syndrome can sometimes have mature egg cells that a gynecologist can pick out and freeze. The eggs can later be thawed and used at IVF.
Living with Turner syndrome
Having Turner’s syndrome is no obstacle to living a good life, but since Turner’s syndrome is something you have all your life, it can cause you to worry and worry about the future. For example, there may be thoughts about their health, about relationships, about career choices and education.
When the child has thoughts
The child can receive support calls from the healthcare team when needed. It can be, for example, when the child is in his teens and has questions about his own body, about his identity, sexuality and the future. But even a younger child may have similar issues and may then receive support calls.
Many of the thoughts of a child or a teenager with Turner’s syndrome are probably not different from the thoughts of a child or a teenager without Turner’s syndrome. The site UMO contains information that is aimed at anyone between the ages of 13 and 25. There, the teen can get answers to questions about sex, health and relationships.
Sometimes the child and the family may want to get in touch with someone else who has Turner syndrome. Through the Association , they can meet other children and adults with Turner’s syndrome, for example at camps and local meetings. There, parents can also meet, as well as relatives of children and adults who have Turner’s syndrome.
When you as a parent have thoughts
As a parent of a child with Turner syndrome, you may also need support calls. There may be times when you may have more questions and worry about the child’s future, for example when you find out about the diagnosis, when the child should start school or be in puberty. Address your concerns with the healthcare team.
The Sibling Competence website contains information for siblings of children who have a disability, illness or diagnosis. Sibling competence is a project within Ågrenska , a national competence center for children with rare diagnoses.