Turner Syndrome – Causes, Symptoms, and Treatment

When we plan to have a baby and raise a family, all we think about is how positive and how good it can be, but the reality is that problems also exist and sometimes require some serious measures. Not that it is not something positive for parents to have a child, but of course when there is a genetic disease like the Turner syndrome things end up getting different. Diseases such as the Turner syndrome can cause parents to learn to deal with some situations they were not planning or, often, they had no idea they existed. In any case, this does not prevent the creation of her daughter is not good, but it is necessary to understand what the disease is, how it arises and what effects it causes in people’s lives.

 

What is Turner Syndrome?

 

The Turner syndrome has this name because it was identified by researcher and physician Henry Turner in the year 1938. It is a chromosomal anomaly, 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. The estimate is that only 1% of pregnancies that have a baby with this syndrome come to an end as there must be proper conceiveeasy reviews every month to get protect ion from different serious deceases , like vast majority having spontaneous abortions. It is considered an extremely rare disease because, as we have already mentioned, most pregnancies that have this deficiency or absence of X chromosome ends up in an abortion. Even so, women who have Turner syndrome exist and have development and symptoms of the disease during their lifetime.

 

Causes of Turner Syndrome

 

People’s genetic information is normally carried by 46 chromosomes. While the Y chromosome represents the male, the X represents the female sex. And it is precisely because of a total or partial absence of the X chromosome that the Turner syndrome occurs, which makes the women with this disease only have 45 chromosomes in total. There are some types of genetic changes that cause Turner syndrome to occur. Are they:

Mosaicism

Chromosome Material Y

Monosomy

Monosomy

Monosomy is nothing more than the lack of a member of a pair of chromosomes. When it is complete, with all the cells of the body with only one X chromosome, we call it full monosomy, one of the most common cases that occur with people who have the Turner syndrome. Monosomy often occurs because of a problem with the father’s sperm or with the mother’s egg.

 

Chromosome Material Y

 

Although not a major cause of the turner syndrome, it may also occur that some cells, by some mistake, have a double Y chromosome material with an X chromosome.

 

Mosaicism

 

This type of alteration occurs when the set of chromosomes is presented in mosaic, that is when the person presents two different genetic materials. When a baby presents 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 during the life of a woman who has this disease.

Below average weight at birth

Very low stature

Droopy eyelids

Long thorax

Primary or secondary amenorrhea

Lack of development of sexual characteristics

Wide nipples

Short Fingers

Kidney problems

Infertility

 

Excess skin on the neck

 

There is 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 illness with mental retardation that make the person have difficulty in some aspects like doing calculations, but have good intelligence in other areas, such as verbal, for example.

 

Turner Syndrome Treatments

 

The treatment of the Turner syndrome is basically done through hormonal replacement that causes the woman to gain and maintain her bone mass, as well as to enable the sexual development of the person. It is recommended that this treatment be done from the early teens 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.

 

Possible Complications

 

Because of the difficulties that exist in the development of the woman, other complications can end up appearing, especially when the treatment is not done in the correct way. The main complications that can appear due to the Turner syndrome are:

Serious kidney problems

Heart problems

Celiac disease

Difficulty learning

Hypertension

Diabetes

 

Living with Turner’s Syndrome

 

Because of the type of physical development the disease provides, it is very common for people who have turner syndrome to have relationship problems and self-esteem, and may even develop depression. Therefore, it is always important to have the follow-up of a psychologist who knows how to deal with and develop a treatment for women, especially during adolescence. In this way, it is possible that larger problems are avoided. Genetic diseases are often associated with a difficult and painful life, but whoever has the Turner syndrome can have a good, happy life. Of course, there will always be some common difficulties with the disease, but with a good hormonal and psychological treatment, it is possible that a person who has the disease can live quietly. Not everything in life goes as planned, but it is necessary to accept and fight to adapt to the conditions that are imposed.

 

Vitellin Bag – What is and What is the Importance

 

In early pregnancy, some structures are created. They are not part of the body of the embryo , but are there to assist you in your vital functions. So is the yolk sac, along with the other structures create conditions for the baby to develop.

 

What is the Yolk sac?

 

The yolk sac or yolk sac is the first element observed in the gestational sac during pregnancy, usually from the 3rd day of gestation. It does not work for very long, about three months, but it is of great importance for the development of the fetus. Much of it will be incorporated into the primordial intestine from the 4th week of gestation. This is why the size of the yolk sac in the first six weeks after fertilization of the ovum is much larger than the size of the amniotic cavity along with the emerging embryo.

 

Why Do I Need a Yarn Sack?

 

Each stage of pregnancy has characteristics that are a fairly reliable indicator that pregnancy is healthy and develops as it should.In the early stages of development, when the embryo is formed, only the yolk sac performs a variety of functions, without which the normal development of the baby would be impossible.

 

Functions of the Yolk Bag

 

The yolk sac works to feed the embryo during the early stages until the placenta takes over, which happens around the 8th week of gestation . It also acts as a system that allows blood and nutrients to circulate throughout the embryo, called the circulatory system . From the 18th day of the beginning of a new life in the vitelline sac, the first embryonic red blood cells (eritoblasts) are formed and the capillaries begin to grow, after which the entire fetal circulatory system has formed. From the 28th day, the walls of the yolk sac produce the first germ cells, which will later move to the embryonic gonads. It is important to say that, at this time, the eggs of a future girl are formed . If, at this time, the mother has suffered or suffers severe stress – the formation of ovules will occur incorrectly and in the future an adult woman may suffer from infertility. By the 6th week, the yolk sac plays the role of the ” primary liver ” and produces proteins that are very important for the development of the embryo, such as alphafetoprotein. The yolk sac is also actively involved in metabolic processes, the formation of immunity and replenishes discharges from the fetus.

 

Can Ultrasound Bag be seen on Ultrasound?

 

On Ultrasound, the yolk sac is visible from the 5th to 12th week of pregnancy. If the doctor does not see the yolk sac, this condition is considered unfavorable as it may be a sign that the pregnancy can stop evolving at any time. Also, the premature disappearance of the yolk sac is an unfavorable sign. Normally, the yolk sac should have the dimensions:

less than 5.5 mm at 5-10 weeks;

more than 2 mm at 8-12 weeks.

This is because the diameter of the yolk sac increases exponentially between the 5th and 11th weeks of gestation, decreasing soon after, in agreement with the growth of the fetus. At the end of the first trimester , the fetus is fully formed and passes through the placental circulatory type . The yolk sac becomes redundant and is reduced, that is, it decreases to the point of no longer being seen on the ultrasound. Until the end of pregnancy it remains in the form of a small, somewhat oval body whose diameter ranges from 1 mm to 5 mm at the base of the umbilical cord . If the yolk sac is reduced short of the right time, ie when all organs of the fetus have not yet been formed, the pregnancy will not develop properly. The embryo will not be able to evolve into a new stage of development, and will not become a fetus. This is what often leads to a non-viable pregnancy and spontaneous abortion.

What happens if the yolk sac is not visible?

 

If the yolk sac is not visible between the 5th to the 11th week of gestation, there are several hypotheses that may be taken into account:

 

Conception calculation error – The pregnancy may not have been properly identified and is less than 6 weeks old (up to 6 weeks usually the yolk sac is not visible). Ultrasound can determine the heartbeat of the embryo (7 weeks) and the embryo is visible. However, if no yolk sac after 7 weeks is visualized, it may result in termination of pregnancy. Unfavorable prognosis – The woman should undergo a new ultrasound, preferably transvaginally with the high resolution device, to check for the presence or absence of yolk sac. After the 12th week, normally, if the yolk sac is not identified, it means that the fetus began to receive nutrients through the placenta.

 

What Are Embryonic Attachments?

 

Like the yolk sac, the embryonic attachments are temporary structures that are created to give the baby the right conditions to develop during his or her belly period.

Are they:

Yolk sac;

Amniotic sac or amnio;

Alantoide;

Chorion and

Placenta.

 

What Does Irregular Gestational Bag Mean?

 

During the first trimester, one of the check items of the gestational sac is its contour, because in the case of irregular shape, the risk of sac detachment and miscarriage is greater. In these cases, the pregnant woman should remain at rest and make use of medications prescribed by the doctor, so that the gestational sac returns to normal and gestation develops correctly.

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