Turner syndrome: Genetic chromosomal condition without cure - explainer

Turner syndrome is a genetic disorder exclusive to the female sex in which an X chromosome is either partially or entirely missing. Here's what you should know about it.

 A cell is seen undergoing mitosis, replicating its chromosomes as it divides (Illustrative). (photo credit: PIXABAY)
A cell is seen undergoing mitosis, replicating its chromosomes as it divides (Illustrative).
(photo credit: PIXABAY)

Turner syndrome is a genetic disorder exclusive to the female sex in which an X chromosome is either partially or entirely missing.

This condition is spread throughout the world and affects one in 2,000-5,000 female births globally. Turner syndrome is also characterized by its very distinctive symptoms, which often results in body parts developing differently and can also result in other bodily function changes.

Though Turner syndrome is not inherently fatal, those who suffer from it do have a reduced life expectancy as a result of the associated complications, such as heart problems and diabetes. 

But what is Turner syndrome exactly? What causes it and what are its symptoms? Does it effect intelligence?

Here is everything you should know.

What are Turner syndrome symptoms?

Turner syndrome symptoms can vary between people, especially because some may take a while to manifest, but there are a few elements that can be determined.

But overall, there are some symptoms that are almost universal. Specifically, as noted by the UK National Health Services (NHS), people with Turner syndrome will almost always have underdeveloped ovaries and will be shorter than average.

 DNA, where genetics live. (Illustrative). (credit: PIXABAY) DNA, where genetics live. (Illustrative). (credit: PIXABAY)

As noted by the Mayo clinic, at the prenatal stage - meaning before birth - there are a few signs that can be spotted. These include abnormal kidneys or heart abnormalities as well as abnormal collections of fluids. It is also possible for the baby's neck to be swelling or have thick neck tissue.

After birth, the Turner syndrome symptoms start to be a bit more pronounced.

Babies with Turner syndrome may have low-set ears, narrow and upwardly turned fingernails and toenails with short fingers and toes, a low hairline at the back of the head, nipples that are widely spaced apart, a wide neck, heart issues and a small or receding lower jaw. However, this is just a sample of a number of possible symptoms.

As the child grows older, more symptoms may become apparent as well. 

For starters, Turner syndrome usually results in slower growth, and growth spurts might not happen when expected. Further, one's full height may also be much shorter than the rest of the family. Scoliosis is also often seen. Turner syndrome may also result in either an early end to menstrual cycles or a lack of periods altogether. Sexual development may also stall significantly, and breasts may not develop at all.

Indeed, this leads to the next issue: That people with Turner syndrome almost always are unable to get pregnant. However, modern medical innovations and fertility treatments have now made it possible. But despite this, pregnancy with Turner syndrome is high risk for the mother and should be monitored by a doctor.

Another range of symptoms for Turner syndrome are more internal, specifically regarding the liver, kidneys and sensory issues.

Regarding the former, Turner syndrome is known to be associated with dysfunctional liver, as is obesity. This, in turn, is likely behind the prevalence of non-alcoholic fatty liver disease among people with Turner syndrome.

These issues may also be related to the body's relation to insulin, with some degree of insulin resistance being prevalent among people with Turner syndrome, which can also lead to type 2 diabetes. 

Regarding sensory issues, this is another common result of Turner syndrome. In particular, hearing loss over time is especially prominent and gets progressively worse.

In addition, a large number of people with Turner syndrome have some form of eye disorder. Exactly what kind of eye disorder this may be can vary, with some impacting vision severely and others being far less of an issue.

Turner syndrome has other comorbidities as well, with those suffering from it having a higher likelihood of developing an autoimmune disorder. 

Specific autoimmune disorders, as well as other long-term chronic health conditions have been linked to Turner syndrome. These include, but are not limited to:

  • Hashimoto's disease
  • Celiac
  • Alopecia
  • Psoriasis
  • Vitiligo
  • Hyperthyroidism
  • Ulcerative colitis

Does Turner syndrome affect intelligence?

On the surface, no, but it's a bit more complicated.

Turner syndrome does not inhibit the brain, per se, so someone with Turner syndrome will, in theory, be as intelligent as anyone else. 

However, in practice, there are some areas where Turner syndrome can seemingly inhibit intelligence in the form of a learning disability.

This is usually the result of anything involving spatial visualization, which is the term for mentally manipulating shapes and figures. As such, anything involving this may be difficult, such as math.

This is usually not something especially severe enough that it will keep one from living a normal life, however.

But regarding social intelligence and psychological development, that's something else altogether.

Due to a number of reasons, people with Turner syndrome can have a number of mental health issues and can have serious difficulties in social situations.

What causes Turner syndrome? Is it caused by the mother or father?

Turner syndrome's causes are well understood to be a genetic condition due to chromosomes.

While gender is widely understood to be a social construct, sex is a biological factor determined by two sex-determining chromosomes. These are the X chromosome and the Y chromosome. Males have one X and one Y chromosome, while females have two X chromosomes. These, in turn, make up two of the 46 individual chromosomes humans have.

When a child is born, one of each sex-determining chromosome is inherited from the parent. The mother, as a female, will always provide an X chromosome. A father can provide either an X or a Y chromosome, and if he provides an X chromosome, it means the child will have a female sex.

Turner syndrome is what happens when someone is supposed to have two X chromosomes but a chromosomal abnormality results in there only being one X chromosome or in one of the X chromosomes having an abnormality.

In most cases, Turner syndrome will be caused by the mother, since that is usually responsible for X chromosomal development, but not always. But either way, it is important to note that despite it being a genetic issue, it has nothing to do with the parents.

To explain, Turner syndrome's specific cause is not determined by any known environmental factors or with the age and health of the parents. Rather, it is entirely random caused during the early stages of development. Likewise, Turner syndrome isn't inherited, meaning someone who has it won't pass it on to their children.

Can you treat Turner syndrome?

There is no cure for Turner syndrome. The only treatments that do exist instead focusing on targeting specific symptoms. The goal of this is to monitor the various issues, from physiological to hormonal to psychological. 

Overall, these fixes, such as growth hormone injection therapy, are just taking care of the symptoms and don't tackle the root cause. As such, the treatment efforts will be something that need to be maintained for the entirety of one's life. However, it can still enable a person suffering from Turner syndrome to live as comfortable of a life as possible.

How is Turner syndrome diagnosed?

Turner syndrome can be diagnosed with genetic testing and can be done at the prenatal stage or after birth.

What is Parsonage Turner syndrome?

Parsonage Turner syndrome is an entirely different condition and is wholly unrelated to Turner syndrome.

Also known as PTS or acute brachial neuropathy, this is a rare neurological disorder that causes severe and sudden pain in the shoulder and severe weakness. 

The weakness itself is caused by nerve damage. However, regarding the rest of Parsonage Turner syndrome, no one really knows what causes it, though there are some theories.