Home Genetic disorders Turner syndrome: causes, symptoms and treatment

Turner syndrome: causes, symptoms and treatment

by Alivia Nyhan
Published: Last Updated on

Chromosomes are structures found inside a cell that contains genetic information. All eggs have only one X chromosome, while sperm can have both an X and a Y chromosome, determining the sex during fertilization since women have two X chromosomes. In contrast, men have one X and one Y. During fertilization, there may be genetic alterations that affect chromosomes, which can produce essential modifications in the development of a being, among which is Turner syndrome. Next, in the following FastlyHealarticle, we will inform you about Turner syndrome: causes, symptoms, and treatment.

What is Turner syndrome?

Turner syndrome is a genetic disorder that affects around 2,500 young women. The patient lacks one of the two X chromosomes of the female gender or is incomplete, a significant genetic element to determine the development of a being alive.

Women with this disorder are short, approximately 1.40 meters, when they are adults. This disorder presents characteristic physical features that differentiate this syndrome. In addition to this, your ovaries will not function properly, so they are sterile. This is because they do not have adequate development, resulting in an alteration in all secondary sexual qualities.

Causes of Turner syndrome

Turner syndrome occurs in girls in whom there is an absence of part or all of the X chromosome, which can occur in all or some of their cells. Generally, the girl will need to receive an X chromosome from each parent, and when a failure occurs, usually during egg or sperm formation, Turner syndrome occurs. It is not considered a hereditary disease but genetic because it happens during fertilization.

This disorder, in turn, can present a series of genetic alterations, such as:

  • Mosaicism: is a term used when there is an error during cell division in the early stages of the development of the fetus and results in some cells in the body having two complete copies of the X chromosome and other cells having only one copy.
  • Monosomy: it is the complete absence of the X chromosome. It occurs due to a failure in the father’s sperm or the mother’s egg, so each girl’s cell lacks an X chromosome.
  • X chromosome abnormalities: It is not the complete absence of the X chromosome, but parts are missing, or abnormalities are present. This error can occur during fertilization, and although some cells may have a standard copy, others may have an altered one.

Turner syndrome: symptoms and characteristics

Symptoms of Turner syndrome can range from infancy to adulthood. Some girls may seem not to have this disorder, but in others, its characteristics are evident, such as their physical qualities and early growth. In some cases, it can be known that the girl will have Turner syndrome through a prenatal ultrasound. Next, we will mention the symptoms of Turner syndrome.

Symptoms before birth

  • Excessive accumulation of fluid in the back of the neck.
  • Heart abnormalities.
  • Alterations in the kidneys.
  • The information can also be obtained through DNA analysis to detect specific chromosomal abnormalities in the baby.

Symptoms at birth and during growth

  • Wide neck.
  • Wide bust with well-separated nipples.
  • Narrow palate.
  • Arms that rotate outward from the elbows.
  • Stunted growth, which is why girls tend to be much smaller than their age.
  • Heart abnormalities.
  • Kidney abnormalities
  • Low location of the ears.
  • Swelling of the hands, feet, and back.
  • Increased risk of diabetes.
  • Retracted jaw.
  • Low hairline in the back area.

Symptoms during adolescence and adulthood

  • Stunted growth.
  • Absence of sexual changes at puberty.
  • Early absence of menstruation
  • Sterility.
  • Risk of osteoporosis.

Turner syndrome treatment

Due to many alterations, this disorder should be monitored by specialists such as pediatricians, surgeons, cardiologists, nephrologists, nutritionists, and psychologists.

To treat growth retardation, growth hormone should be administered by subcutaneous injection daily from 4 years of age. If this hormone is not issued, the patient can measure up to 20 cm less than the average, while when this hormone is administered, it can be as little as 5 cm.

Related to the development problems, treatment should be based on estrus genes between 13 and 14 years to appear menstruation, decreased risk of osteoporosis, and the development of secondary sexual qualities, in addition to reducing vascular risk. Women with Turner syndrome cannot get pregnant, but they could have children through treatment with in vitro fertilization techniques.

If the young woman has many alterations in her facial features, plastic surgery may be considered to improve the aesthetics and self-esteem of the woman.

The nutritionist should monitor how the patient with this disorder eats to reduce the risk of diabetes or obesity. If the patient already has diabetes, treatment consists of orally administering hypoglycemic agents.

To treat alternate symptoms of the syndrome, such as kidney or cardiovascular conditions, they must be directly attended to by a specialist, who will perform relevant tests and determine the exact treatment for the disease.

This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor if you present any condition or discomfort.

If you want to read more articles similar to Turner Syndrome: causes, symptoms, and treatment, we recommend that you enter our Genetic Disorders category.

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