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 quite serious measures. Not that it is not a positive thing for parents to have a child, but it is clear that when there is a genetic disease like turner’s syndrome, things end up getting different.
Diseases like turner syndrome can make parents need to learn to deal with some situations that they were not planning or, many times, that they had no idea that they existed.
In any case, this does not prevent your daughter’s upbringing from being good, but it is necessary to understand what the disease is, how it arises and what effects it causes on people’s lives.
What is Turner Syndrome?
Turner syndrome has this name because it was identified by the researcher and physician Henry Turner in 1938. It is a chromosomal abnormality, that is, a genetic disease.
The disease affects only women , as it is a partial or total variation of the X chromosome, the sex chromosome. It is estimated that only 1% of pregnancies that have a baby with this syndrome reach the end, with the vast majority having spontaneous abortions.
It is considered an extremely rare disease because, as we have already mentioned here, most pregnancies that have this deficiency or absence of X chromosome end up in an abortion. Even so, women who have turner syndrome do exist and develop and develop symptoms of the disease during their lifetime.
Causes of Turner Syndrome
The genetic information of people is normally carried by 46 chromosomes. While the Y chromosome represents the male, the X represents the female. And it is exactly due to a total or partial absence of the X chromosome that the turner syndrome occurs, which means that women with this disease have only 45 chromosomes in total.
There are some types of genetic changes that cause the turner syndrome to occur. Are they:
- Y Chromosome Material
Monosomy is nothing more than the lack of a member of a pair of chromosomes. When it is complete, with all the cells in the body with just one X chromosome, we call it complete monosomy, one of the most common cases that occur with people who have turner syndrome. Monosomy often occurs because of 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 can also happen that some cells, due to some error, have Y chromosome material paired with an X chromosome.
This type of alteration occurs when the set of chromosomes is presented in a mosaic, that is, when the person has two distinct genetic materials. When a baby has normal cells and cells with monosomy at the same time, mosaicism occurs.
Symptoms of Turner Syndrome
There are many symptoms that characterize a person with turner syndrome. We can list to show how some of them manifest themselves during the life of a woman who has this disease.
- Below average birth weight
- Very short stature
- Drooping eyelids
- Long thorax
- Primary or secondary amenorrhea
- Absence of development of sexual characteristics
- Nipples very wide apart
- Short Fingers
- Kidney problems
- Excessive skin on the neck
There is a great debate as to whether turner syndrome is directly related to the intellectual development of an affected woman. The truth is that there are some rare cases of the disease with mental retardation that cause the person to have difficulty in some aspects such as making calculations, but who have good intelligence in other areas, such as verbal, for example.
Treatments for Turner Syndrome
The treatment of the turner syndrome is basically done through hormone replacement that makes the woman gain and maintain her bone mass, in addition to also enabling the person’s sexual development.
It is recommended that this treatment be done from the early years of adolescence so that it has good results. A doctor may also recommend that a woman who has the disease undergo plastic surgery because of symptoms such as excess skin on the neck, for example.
Because of the difficulties that exist in the woman’s development, other complications may end up, especially when the treatment is not done correctly. The main complications that can appear due to the turner syndrome are:
- Serious kidney problems
- Heart problems
- Celiac disease
- Learning difficulties
Living with Turner Syndrome
Because of the type of physical development that the disease provides, it is very common for people who have turner syndrome to have problems with relationships and self-esteem, and may even develop depression.
For this reason, it is always important to be accompanied by a psychologist who knows how to deal with and develop treatment for women, especially during adolescence. In this way, it is possible that bigger problems are avoided.
Genetic diseases are often associated with a difficult and painful life, but those who have turner syndrome can have a good and happy life. Of course, there will always be some difficulties common to the disease, but with good hormonal and psychological treatment it is possible that a person who has the disease can live peacefully.
Not everything in life goes as planned, but it is necessary to accept and fight to adapt to the conditions that are imposed.
My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.
Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.