Turner Syndrome, also known as monosomy X, is a genetic condition that affects women and occurs when one of the sex chromosomes, usually the X chromosome, is partially or completely absent. This condition can have a significant impact on the physical development and health of people who suffer from it. In this article, we will explore in depth the symptoms, types, causes and treatments of Turner Syndrome.
Symptoms of Turner Syndrome
Turner Syndrome can manifest itself in different ways and the symptoms can vary in severity. Some of the most common signs and symptoms include:
Short stature
Women with Turner syndrome tend to be shorter in height than average. This short stature usually becomes evident during childhood and can persist into adulthood.
Problems in sexual development
Women with this syndrome usually experience delays in sexual development and present characteristics underdeveloped secondary sexual characteristics, such as small breasts, no menstruation or no menstruation.
Heart problems
People with Turner Syndrome have an increased risk of developing heart abnormalities, such as in the aortic valve or aorta. These conditions may require medical monitoring and treatment.
Kidney problems
Some women with this syndrome may experience kidney abnormalities, such as horseshoe kidneys or malformed kidneys, which may require attention specialized medical attention.
Other symptoms
In addition to the symptoms mentioned, people with Turner Syndrome may also present other physical characteristics, such as web neck, swollen hands and feet, epicanthal folds in the eyes, among others.
Types of Turner Syndrome
There are different types of Turner Syndrome, which are classified according to the alteration in the sex chromosomes. The two most common types are:
Classic Turner
In classic Turner, one of the copies of the X chromosome is partially or completely absent in all cells of the body. This results in a complete genetic condition that affects all of the individual's cells.
Mosaic Turner
In mosaic Turner, some cells in the body have a lack of an that other cells have both Turner syndrome is caused by the partial or complete absence of an X chromosome in cells. This condition can occur randomly during the formation of gametes (eggs) or in the early stages of embryonic development. Some of the causes and risk factors associated with Turner Syndrome include:
Errors in cell division
Errors in cell division during egg formation can lead to absence of an These mutations can be inherited from parents or can occur spontaneously during embryo development.
Advanced maternal risk factors
Women who have children at an older age have a increased risk of having a baby with Turner Syndrome. This is because with age the probability of errors in cell division during the formation of eggs increases.
Diagnosis and Treatment of Turner Syndrome
Turner Syndrome is It is usually diagnosed through genetic testing that reveals the partial or complete absence of an X chromosome. Once diagnosed, treatment for Turner Syndrome focuses on addressing the symptoms and complications associated with the condition. Some treatment options include:
Hormone replacement therapy
To address problems with sexual development and delayed puberty, hormone replacement therapy may be prescribed to help stimulate the proper growth and sexual development.
Treatment of medical complications
Medicines or medical interventions may be used to treat medical complications associated with Turner Syndrome, such as heart problems, kidney problems, or thyroid.
Regular medical follow-up
It is important that people with Turner Syndrome receive regular medical follow-up to monitor their growth, development and general health. This allows any complication to be detected and treated in a timely manner.
Conclusions
In summary, Turner Syndrome is a genetic condition that affects women and is characterized by the partial absence or total of one X chromosome. This condition can have a significant impact on the physical development and health of people who suffer from it. Early diagnosis and appropriate treatment are essential to address the symptoms and complications associated with Turner Syndrome. With proper management, people with this condition can lead healthy, full lives.