What is Turner syndrome?

The 46 (or 23 paired) chromosomes in the human body store genetic material. Your sex is determined by your X and Y chromosomes. One X and one Y chromosome are found in the male sex. There are two X chromosomes in the female sex.

Turner syndrome is a chromosomal aberration on one of your sex chromosomes that causes a hereditary condition. Monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome are all names for the same condition. This is a condition that affects only the female sex.

Turner syndrome is caused by the absence of part or all of one of your X chromosomes. Approximately 1 in every 2,000 girls suffers from this condition.

Turner syndrome people can live long and healthy lives. However, in order to recognize and cure issues, they usually require regular medical attention.

Turner syndrome cannot be prevented, and the cause of the genetic defect is unclear.

Turner syndrome

Symptoms

Turner syndrome affects females and causes them to have particular physical traits from birth and in childhood, such as:

  • obesity
  • droopy eyelids
  • flat feet
  • swollen hands and feet (in infants)
  • short stature
  • a high palate
  • low-set ears

Turner syndrome can cause a variety of medical problems in women, including:

These signs and symptoms might show up as early at infancy. Sexual development and fertility difficulties, on the other hand, can emerge later in adolescence.

Turner syndrome is not diagnosed just on the presence of one or more of these symptoms. It is important that young females who are suspected of having this disease get a comprehensive evaluation by a specialist in order to receive an accurate diagnosis.

Diagnosis

Turner syndrome can be diagnosed through prenatal genetic testing done before delivery. Karyotyping is used to diagnose the condition. Karyotyping, which is done during prenatal testing, can reveal any genetic abnormalities in the mother’s chromosomes.

Tests to seek for physical symptoms of Turner syndrome may be ordered by your doctor. These tests may involve the following:

  • pelvic exam
  • pelvic and kidney ultrasound
  • blood tests to check sex hormone levels
  • chest MRI
  • echocardiogram¬†to examine for heart defects

Complications

Turner syndrome people have an increased risk of developing certain medical conditions. Complications can be managed with proper monitoring and regular examinations.

Abnormalities of the kidneys are very common. Recurrent urinary tract infections are common in Turner syndrome females. The kidneys could be abnormal or positioned incorrectly in the body. High blood pressure can be exacerbated by several disorders.

Hypothyroidism is a condition in which the thyroid hormone levels are abnormally low. Another issue could arise as a result of this. The thyroid gland is inflamed, which causes it. It can be treated with thyroid hormone supplements.

Turner syndrome people are also at a higher risk of getting celiac disease than the general population. Celiac disease is an allergic reaction to the protein gluten, which is found in foods such as wheat and barley.

Turner syndrome patients frequently experience heart problems. Problems with the aorta and high blood pressure should be monitored in people with the condition.

Obesity may be a problem for certain Turner syndrome patients. It has the potential to raise the risk of diabetes.

Living with Turner syndrome

If you’ve been diagnosed with Turner syndrome, you can still live a healthy life. There is no cure, but there are therapies that can help you feel better and live longer.

Children with Turner syndrome may benefit from growth hormone injections to help them grow taller. Hormone therapy can also help with secondary sex characteristics such as breasts and pubic hair development. It’s commonly given at the beginning of puberty.

Women who are unable to conceive due to Turner syndrome can use donor eggs to conceive. For additional information about various methods, your gynecologist can send you to a fertility specialist.

Finding a support group for women with the condition or speaking with a counselor can help you deal with emotional issues as well as any other issues that arise as a result of your condition.

Sources:

  • turnersyndrome.org/copy-of-about
  • ncbi.nlm.nih.gov/pubmedhealth/PMH0001280/
  • ncbi.nlm.nih.gov/pubmedhealth/PMH0001280/
  • https://www.healthline.com/health/turner-syndrome
  • media.wix.com/ugd/8fb9de_1de8ea74ba3c4014be8f8689612ab433.pdf
  • ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/

Back to top button