Actually, Turner syndrome is a chromosomal abnormality or disorder that affects mostly female babies.. To learn about this syndrome and ways to prevent or control it, stay with us in this article from GCORP LLC.

What is Turner syndrome?

Turner syndrome or gonadal dysgenesis is a chromosomal abnormality, as a result of which a female baby born has only one X chromosome or two defective chromosomes instead of having two X sex chromosomes. In this way, medically, the baby born has Turner syndrome.

According to the statistics obtained from the studies, one out of every 2500 babies born may be affected by this syndrome.. Turner syndrome is actually one of the most common chromosomal disorders that affects female babies after Down syndrome.

About 98% of fetuses formed with this chromosomal disorder are usually aborted....but babies born with this syndrome also face a high risk of death in infancy.

On the other hand, even after birth, affected babies are much slower than average in terms of general and mental development... So these children will face problems from the very beginning of life.

See more: List of best gynecologists and infertility specialists

What are the symptoms of Turner syndrome and what problems does it cause for the affected person?

Turner syndrome usually causes various medical and developmental problems for the affected person.. Some of the major problems are:

• Short stature
Ovarian failure and infertility
• Defects in the heart
• Obstruction of pulmonary arteries
• Kidney abnormality
• Mental retardation
• Hearing problems
• Abnormal eye shape, including drooping eyelids
• Skeletal abnormality
• High blood pressure
• vision problems
Suffering from various autoimmune diseases
• chest width
• Jaw and mouth abnormality
• Lower hairline
• Great distance between the nipples
• The presence of a curtain-like part in the skin between the neck and shoulder

Types of Turner syndrome

Although suffering from this syndrome is a genetic and chromosomal disorder, studies have shown that the probability of this disease occurring in babies whose mothers are over 40 years old is higher.

In general, this syndrome appears in two ways:

• Classic Turner syndrome: in which one of the X chromosomes is completely missing.
• Mosaic Turner syndrome: in which the second X chromosome is present in only some cells.

How is Turner syndrome diagnosed?

Turner syndrome, like many genetic disorders, can be diagnosed under certain conditions at different times. Although the symptoms of this disorder usually appear in the early years of a child's life, in some people, symptoms appear after experiencing a normal period of puberty.

In the following, the diagnosis of this disorder in fetal, infant, childhood and adulthood will be examined.

1) diagnosis in the embryonic period

Diagnosis of this syndrome before birth is possible through maternal blood test or ultrasound... This method is in the group of DNA screenings, so it can also detect this chromosomal abnormality.

Usually, an ultrasound of a fetus with Turner syndrome will show one of the following:

• Abnormal accumulation of fluid at the back of the neck
• Cardiac abnormality
Abnormal kidneys

If there are such symptoms, karyotype and aminosynthesis are usually prescribed.. Although in very rare cases, after the birth of the baby, the result of the karyotype is completely normal and shows that the karyotype was wrong during pregnancy...

2) Diagnosis in infancy

Diagnosis of this disease is done after birth and during infancy through peripheral blood karyotyping and chromosomal examination.

• Having a wide neck
• Ears smaller than normal
• Shortness of the baby's height compared to the average height of the baby
• Broad chest
• Wide nipple
• Slow baby growth
• Existence of heart problems
• Narrow and upturned nails of the child
• Having a long and narrow roof of the mouth
• short fingers
• Jaw small and lower than normal
• Short hairline on the back of the head

According to the mentioned symptoms, if you see any of these symptoms, it is better to consult a doctor as soon as possible so that treatment can start if possible.

3) Diagnosis in childhood

As mentioned earlier, growth retardation, learning problems and short stature are among the obvious symptoms of Turner syndrome.. This disorder also manifests itself in puberty in the form of ovarian failure, menstrual problems and lack of sexual development... In such a situation, karyotype is one of the necessities.

The most common symptoms to diagnose it in childhood and adolescence include the following:

• Unusual shortness of height compared to peers
• Slow growth
• Not making the expected sexual changes during puberty
• Early end of menstruation
• Inappropriate sexual development including breast development at expected ages

4) diagnosis in adulthood

Diagnosing it in adulthood is one of the rarest types of diagnosis of this disorder... because there are a handful of these girls who go through normal puberty, but have fertility problems or early menopause.

In many cases, it is difficult to diagnose this disorder in old age... because tests usually only show low levels of estrogen in these people... but in any case, karyotyping can easily make a definitive diagnosis.

What are the causes of Turner syndrome?

Turner syndrome is a disorder and chromosomal abnormality... Therefore, this disorder usually occurs during the fetal period and during the formation of the baby.... All babies are born with two main sex chromosomes.

A baby boy inherits his x chromosome from his mother and his y chromosome from his father.... Meanwhile, a baby girl inherits one of her x chromosomes from her mother and her other x chromosome from her father... So, in general, this abnormality is not unusual.

1) Causes of monosomy

The reason for this is the existence of a disorder or imperfection of the x chromosome in the mother's ovary.

2) Causes of mosaic

There may be a disturbance during cell division in the embryonic stage.... In such a situation, not all cells in the body of the female fetus have a pair of healthy x chromosomes.

3) abnormality in chromosome x

The presence of abnormalities or the absence of a part of the X chromosome in the mother's egg or the father's sperm can lead to Turner's disorder in the fetus or newborn.

According to the mentioned cases, it can be concluded that genetic factors and family history are not involved in the occurrence of these disorders, except in rare cases.... Therefore, this chromosomal disorder may occur in any person.... The only way to control it is to perform relevant tests during pregnancy in order to screen for Turner syndrome.

What are the ways to treat Turner syndrome?

Given that the diagnosis of this syndrome may be done at different ages... therefore, the ways of treating this disease are also very different in different people.... Some of the most common treatment methods for this disorder are:

1) growth hormone injection

Injecting growth hormone in early childhood to adolescence can greatly help the growth of bones... so the child's growth will be more natural.

2) injection of estrogen hormone

If the signs of puberty do not appear in girls, receiving estrogen hormone can help the growth of breasts and the normalization of the size of the uterus in girls.

3) pregnancy treatments

If Turner syndrome is diagnosed in adulthood, a person may need to receive treatment methods for pregnancy... Because a very small percentage of people with this syndrome can get pregnant naturally.

Conclusion

In this article, we reviewed the details and information about Turner syndrome... We hope this information can help you in the process of treating this condition... But our strong recommendation is that if you see any of the symptoms mentioned in this article, consult your doctor first... If you or your friends have experienced Turner syndrome, share it with us in the comments section.

GCORP LLC expert doctors guide you to get the best treatment methods.

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