Turner Syndrome – Symptoms, Causes & Treatment

For any parent, it can be a difficult and painful experience to raise a child with a disability or an illness. Some of these conditions are treatable and manageable, but some such as a turner syndrome are life-long battles that can pose one challenge after another.

What Is Turner Syndrome?

A chromosomal-anomaly-based illness, Turner syndrome is known to affect only girls. In the human body, there are a total of 46 chromosomes, amongst them are the X and Y chromosomes that decide the gender of the child. A boy has one X and one Y chromosome whereas a girl has two X chromosomes. If a girl is born with only one X chromosome, the condition is known as Turner syndrome, also known as Monosomy X.

Turner syndrome causes girls to be shorter, may hinder the transition into puberty and adulthood, and can cause complications of the kidneys and other renal organs as well as the heart.

What Are the Types of Turner Syndrome?

Turner syndrome can manifest in the following forms:

• Classic Turner Syndrome: This is when an entire X chromosome is missing. This is the most common form of Turner syndrome.
• Mosaic Turner Syndrome: In this case, a person may have some cells that have a single X chromosome, and some cells that either has 2 copies of the X chromosome or an X and a Y chromosome.
• Partial Turner Syndrome: In this case, the person has one complete copy of the X chromosome and one altered copy of X chromosome (where part of it may be missing or duplicated, etc.
• Y Chromosome Material: In this case, a girl is born with cells that contain one complete X chromosome, and some Y chromosome related material. These individuals have a high risk of getting cancer, specifically a form known as gonadoblastoma.

How Common Is Turner Syndrome?

Turner syndrome does not affect most women, and the condition itself is considered rare. Doctors believe that most foetuses, when diagnosed with Turner syndrome, do not survive the pregnancy, leading to a miscarriage.

What Are the Causes of Turner Syndrome?

Biologically, during conception, the mother’s egg fuses with the father’s sperm; both these cells have 23 chromosomes. At the end of fertilisation, the first cell of the baby is formed, with 46 chromosomes (or, a complete set of 23 pairs).

There are times, however, when an egg or sperm cell undergoes issues during this period, and this can lead to a missing sex chromosome. This error that leads to monosomy X can occur either at the time of formation of sperms in the father or the fusion of the egg cell from the mother. The probability of having a second child affected by Turner syndrome is not dependent on the status of the first child.

What Are the Symptoms of Turner Syndrome?

Symptoms of Monosomy X can be observed in three stages:

Before Birth

If a doctor suspects a foetus is at the risk of Turner syndrome, he can identify it prenatally in two ways:

• Cell-Free DNA Screening – This is when the doctor uses a blood sample of the mother to identify possible abnormalities in the development of a foetus.
• Prenatal Ultrasounds – These can help identify Turner syndrome by showing various physical issues that may be present in the foetus. These signs include abnormal kidney development, an abnormal heart, a large collection of fluid behind the baby’s neck, and other fluid irregularities known as oedemas.

At Birth or During Early Childhood

There are many signs you should watch out for that are indicative of Turner syndrome. They usually occur at birth or during infancy. The signs of Turner syndrome include:

• Broad chest with widely spaced nipples
• Wide or webbed neck
• Lower than average height at birth
• Slow growth
• Cardiac defects
• Low-set ears
• Small lower jaw
• Swelling of the hands and feet at birth
• Arms turn outward from the elbows
• Short fingers and toes

In Young Children

The symptoms of Monosomy X can also manifest at a slightly later date. These symptoms usually begin exhibiting before their teens and well into their adult lives. They can manifest suddenly or degrade gradually over the child’s lifespan. Some of these signs include:

• A slower rate of body growth – The lack of regular growth spurts during the child’s lifespan and the delay or lack of growth overall can be a sign of Turner syndrome. Expect the child to be on the lower end of the height scale compared to other women in your family.
• Delayed puberty and related-problems – Turner syndrome can cause the child to cross puberty without having sexual changes or have those changes develop at a delayed pace. This could also cause the child’s sexual development to stall during the early teenage years. It could also end the child’s menstrual cycle early and show signs of a fake pregnancy. This means the period ends or does not begin on time (which is a sign of both Turner syndrome and pregnancy).

How Is Turner Syndrome Diagnosed?

One of the most important parts of managing this condition is getting it diagnosed. Self-diagnosis of Turner syndrome is not advised as most symptoms can be signs of other conditions during pregnancy or even some other serious conditions. Here are a few ways doctors diagnose Monosomy X at different stages:

• During pregnancy – During pregnancy, an ultrasound test can help diagnose Turner syndrome by revealing some signs of the condition as mentioned above. Additionally, a test known as Amniocentesis can show indications of the condition. Another test known as CVS (Chorionic Villus Sampling) can also help identify the condition prenatally.
• During infancy – During early childhood or infancy, doctors can diagnose Monosomy X through irregular heartbeats, kidney issues, and swelling of the limbs or feet and legs. Additionally, if the baby is known to have a webbed or wider than the normal neck, an unusually broad chest or widely spaced nipples, he may conclude that the child has a Turner syndrome.
• Developmental years – During the child’s growth years, doctors can judge if the condition is present by assessing the growth. If the child doesn’t grow or if her ovaries do not develop normally, then this condition may be present. If puberty is delayed, the child can have a blood test known as karyotype to diagnose the presence of Turner syndrome.

Note: The karyotype test reveals if the child has any abnormalities in the chromosomes, like a broken, altered or missing chromosome. This test can also be done prenatally. It is done by taking some of the amniotic fluid when the baby is still occupying the uterus. After birth, this test can be performed by taking blood samples. If the results of the test at any period of the lifespan of the child show a missing chromosome X, the diagnosis could be Turner syndrome.

Risk Factors

Turner syndrome is caused due to the loss or the alteration of the X chromosome, which is known to be a random occurrence. It could be linked to a problem with the egg or the sperm or to some complications in the early stages of foetal development. However, there is no evidence that a family history of the condition, toxins or other environmental factors can increase the risk of the condition. So, even if a family has one child with Turner syndrome, it does not increase the risk of another child having the same condition.

What Are the Complications?

Turner syndrome, apart from affecting reproductive abilities of the affected individual, can also cause other health problems, which are mentioned below:

• Cardiovascular or Heart Trouble – One of the most common complications of this condition is abnormal heart functions that can lead to possibly severe heart problems.
• Learning Disabilities – Girls diagnosed with Monosomy X are known to be more susceptible to learning disorders like dyslexia, attention disorders, spatial understanding, and math.
• Autoimmune Disorders – Girls with Turner syndrome are known to have weaker immune systems leading to higher chances of being affected by autoimmune disorders.
• Skeletal Problems – This condition is known to cause skeletal issues like osteoporosis. A girl diagnosed with Monosomy X is also known to be at the risk of arthritis.
• Infertility – A large percentage of females who are diagnosed with Monosomy X are known to be either infertile or have difficulty carrying a baby to term.
• Hearing Difficulty – Hearing problems or a complete loss of hearing is one of the most common complications of this condition. This is due to the deteriorating nerve functions. The loss of hearing can be gradual or can be spontaneous.
• Blood Pressure Imbalances – Girls with Turner syndrome are known to have mild to severe blood pressure issues.
• Blood Sugar Fluctuations – Females who have Turner syndrome are known to have random spikes in blood sugar levels. This can be monitored and managed with a healthy diet.

• Problems with Social Interactions – Women with Turner syndrome may also have difficulty with social interactions due to the immense number of mental health issues and body issues caused by this condition.
• Tooth Loss – Women with Monosomy X face the prospects of tooth loss far more than a healthy woman.

How to Treat Turner Syndrome

Unfortunately, there is no cure for Monosomy X. However, the side effects of this condition can be managed with lifestyle changes, therapy, and medication. For instance, blood pressure and blood sugar can be managed through medication and diet and lifestyle management. Exercise can help alleviate hypertension and improve body image issues and manage mental health. You can always consult a doctor if your child has any problem.

Will Your Second Child Also Have Turner Syndrome?

Doctors have yet been unable to diagnose the cause of Turner syndrome. It is believed that it manifests because of a single copy of the X chromosome and when there is something wrong with the other sex chromosome. If your baby is a boy, then they will not be affected by this condition. The likelihood of your other girl child being affected by the same condition is also rare as there is no genetic link that proves siblings are more susceptible to this condition. To know more, you can consult a specialist.

Living With Turner Syndrome

Living with Monosomy X can be a difficult process that requires constant attention and care. This condition not only affects a child physically but it also deteriorates her mental health. If your child has Turner syndrome, you can take her to a counsellor who specialises in mental health for children with disabilities and life-altering illnesses. Working closely with doctors and keeping caregivers in the loop can also help your child maintain an almost normal lifestyle. Once older, treating symptoms and working on maintaining a healthy lifestyle can make coping with this condition easier.

Can Turner Syndrome Be Prevented?

As mentioned above, Monosomy X cannot be treated; the same can be said for prevention. This, however, does not mean the symptoms cannot be prevented. Setting your child on a course of healthy diets, exercise and the correct medication can help prevent or manage some of the more serious complications of Turner syndrome. For more information and a treatment plan, please consult your personal healthcare practitioner.

When to Call a Doctor

It is recommended that you maintain a close relationship with your child’s specialist and not miss appointments. It is important to contact your doctor if the complications of the condition become unmanageable or possibly life-threatening. It is always helpful to have a clear guideline of do’s and don’ts from your doctor when managing your child’s complications from Turner syndrome.

Turner syndrome or Monosomy X can be a difficult condition to manage. But you must know that your child can have a normal life if the condition is diagnosed early and managed. There are numerous support groups to help both caregivers and the diagnosed manage the mental strains of this condition. So be a part of them and support your child!

Also read: Edwards Syndrome In Babies, Common Causes For Not Conceiving