Turner syndrome: Causes, symptoms, common disorders

The article was professionally consulted by Specialist Doctor II Cao Thi Thanh - Pediatrician - Department of Pediatrics - Neonatology - Vinmec Hai Phong International General Hospital. Dr. Thanh has worked for 25 years in the treatment of neonatal pediatric diseases.

For Turner syndrome, the main cause of the disease is diagnosed as partial or complete loss of an X sex chromosome in the human genome. This birth defect will cause many dangerous complications for the baby.

According to research, this is the most common sex chromosome disorder in women, causing both mental and physical developmental disorders. Normally, more than 90% of fetuses with Turner syndrome will occur spontaneously, but about 1 in 4,000 girls will still be born with the syndrome.
Usually, each person will have different symptoms and signs, but most people with the disease will often have a short, concave neck, skin folds along the shoulders, low ears,...
In addition, The patient will have low hairline at the back of the neck, short stature and swollen hands and feet since birth. As adults, they do not have periods, have no breasts, especially lose the ability to have children due to chromosomal dissociation. Other abnormalities, diabetes, vision problems, and low thyroid hormone may occur. Moreover, even though their brain thinking is normal, they will have problems with spatial images.

Manifestations of Turner syndrome include:
Small stature The most common feature is the loss of the SHOX growth gene. Growth retardation can occur from birth, and young children tend to be slightly smaller than average.
However, the signs will become more obvious by the time the child is 3 years old and it will become more and more obvious. Therefore, if the patient does not have hormone replacement, they will lose the ability to grow at puberty, so they will continue to grow at a slow rate until about 20 years of age.
Through surveys, women with Turner syndrome are usually about 20cm shorter than the average person.

Premature ovarian failure Over 90% of people with Turner syndrome will have premature ovarian failure. This is the main reason why most patients have no breasts. The ovary is the only place in the human body that has the function of producing eggs and sex hormones to maximize the development of female characteristics of the body such as: female body shape, breasts, menstruation, female skeletal system. .
On average, only about 1/3 of cases will show signs of breast development, but almost all of them cannot complete puberty. In particular, less than 1% of patients can get pregnant naturally.

Turner syndrome will cause health problems such as:
Kidneys: about 30% of patients will have kidney abnormalities. However, many abnormalities will not cause a clinical picture, but lead to urinary tract infections and hypertension in many people. Heart: many people will have aortic stenosis, a 2-cuspid aortic valve instead of a 3-cushion like normal people. In addition, hypertension is common in one-third of Turner syndrome cases. Ear: infants and children with Turner syndrome are more likely to develop otitis media. Most patients with Turner syndrome will have early hearing loss and parents should take their young children to the nearest Vinmec pediatric center for timely treatment. Thyroid: There will often be immune-induced hypothyroidism. Currently, Vinmec is implementing a lot of general health checkup packages suitable for each age, gender and specific needs of customers with very favorable price policy, including:
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