When we plan to have a baby and start a family, all we think about is how positive it can be and the good things it can bring, but the reality is that problems also exist and sometimes require rather serious measures. Not that having a child isn’t something positive for parents, but it’s clear that when there is a genetic condition like Turner syndrome, things end up being different.

Diseases such as Turner syndrome may mean that parents need to learn how to handle certain situations they were not expecting or, often, didn’t even know existed.

In any case, this does not prevent the upbringing of your daughter from being good, but it is necessary to understand what the condition is, how it develops, and what effects it has on people’s lives.

What is Turner Syndrome?

Turner syndrome is named after the researcher and doctor Henry Turner, who identified it in 1938. It is a chromosomal anomaly, in other words, a genetic disorder.

The disease affects only females, as it is a partial or total variation of the X chromosome, the sex chromosome. It is estimated that only 1% of pregnancies with a baby with this syndrome go to term, with the vast majority resulting in spontaneous miscarriages.

It is considered an extremely rare disease because, as we have mentioned here, most pregnancies with this deficiency or absence of the X chromosome end in miscarriage. Even so, women who have Turner syndrome do exist and experience developments and symptoms of the disease throughout their lives.

Causes of Turner Syndrome

The genetic information of people is normally carried by 46 chromosomes. While the Y chromosome represents male, the X represents female sex. And it is precisely a total or partial absence of the X chromosome that causes Turner syndrome, which means that women with this disease have only 45 chromosomes in total.
There are some types of genetic alterations that lead to Turner syndrome. They are:

  • Mosaicism
  • Y Chromosome Material
  • Monosomy

Monosomy

Monosomy is simply the absence of one member of a pair of chromosomes. When it is complete, with all the cells in the body having only one X chromosome, we call it complete monosomy, one of the most common cases in people who have Turner syndrome. Often monosomy occurs due to a problem with the father’s sperm or the mother’s egg.

Y Chromosome Material

Although it is not one of the main causes of Turner syndrome, it may also happen that some cells, due to a mistake, have Y chromosome material together with an X chromosome.

Mosaicism

This type of alteration occurs when the set of chromosomes is presented as a mosaic, that is, when the person has two different genetic materials. When a baby has both normal cells and monosomy cells at the same time, mosaicism occurs.

Symptoms of Turner Syndrome

There are many symptoms that characterize a person with Turner syndrome. We can list them to show how some of these manifest over the life of a woman who has this condition.

  • Below-average birth weight
  • Very short stature
  • Drooping eyelids
  • Wide chest
  • Primary or secondary amenorrhea
  • Absence of development of sexual characteristics
  • Widely spaced nipples
  • Short fingers
  • Kidney problems
  • Infertility
  • Excess skin on the neck

There is much debate as to whether Turner syndrome has a direct relationship with the intellectual development of an affected woman. The truth is that there are some rare cases of the disease with mental delays that cause difficulty in some areas, such as math, but maintain good intelligence in other areas, for example, verbal skills.

Treatment for Turner Syndrome

The treatment for Turner syndrome is carried out primarily through hormone replacement therapy, which helps women gain and maintain bone mass, and also enables the development of sexual characteristics.

It is recommended that this treatment be started from the first years of adolescence to achieve good results. A doctor may also recommend that a woman with the condition undergo plastic surgery due to symptoms such as excess skin on the neck, for example.

Possible Complications

Because of the developmental difficulties present in women, other complications can arise, especially when treatment is not followed correctly. The main complications that may appear due to Turner syndrome are:

  • Serious kidney problems
  • Heart problems
  • Celiac disease
  • Learning difficulties
  • High blood pressure
  • Diabetes

Living with Turner Syndrome

Because of the type of physical development provided by the condition, it is very common for those who have Turner syndrome to experience problems with relationships and self-esteem, even potentially developing depression.

That’s why it’s always important to have the support of a psychologist who knows how to address and develop a treatment plan for women, especially during adolescence. This way, bigger problems can be avoided.

Genetic diseases are often associated with a difficult and painful life, but someone with Turner syndrome can have a good and happy life. Of course, there will always be some difficulties common to the condition, but with good hormonal and psychological treatment, it’s possible for a person with the syndrome to live a normal life.

Not everything in life goes as planned, but it’s necessary to accept and strive to adapt to the conditions imposed.

See also: Hellp Syndrome – Causes, Symptoms, and Treatment
Photo: Medical Prudens