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Turner Syndrome Only Occurs in Girls: Definition, Symptoms, Causes and Treatment

4 min read
Turner Syndrome Only Occurs in Girls: Definition, Symptoms, Causes and Treatment

Turner syndrome can be detected if there is growth retardation, heart defects, reproductive problems and learning difficulties.

Table of Contents

  • What is Turner Syndrome?
  • What Are the Symptoms of Turner Syndrome?
  • 1. Stunted Growth
  • 2. Certain Physical Characteristics
  • 3.Heart Defect
  • 4.Reproduction Problems
  • 5. Learning Problems
  • What Causes Turner Syndrome?
  • Risk Factors
  • Diagnosis and Treatment
  • How Are Turner Syndrome Patients Treated?

What is Turner Syndrome?

Turner syndrome is a rare genetic condition that only affects females. It occurs when one of the two X chromosomes that should be present in a female’s body is missing or does not function properly.

The X chromosome is very important because it stores much of the genetic information needed for normal growth and development. Without a complete X chromosome , females with this disease may face several challenges in their physical and health aspects.

What Are the Symptoms of Turner Syndrome?

Symptoms vary depending on the individual, but some of the most common signs include:

1. Stunted Growth

Children with the syndrome may be shorter than their peers. They will usually experience slower growth and will reach a lower adult height.

2. Certain Physical Characteristics

Women with Turner Syndrome may have certain physical characteristics such as a short and wide neck, low-set ears, or a lower hairline at the back of the head.

3.Heart Defect

Heart problems such as aortic stenosis (narrowing of the main blood vessel  ) or other heart problems can occur.

4.Reproduction Problems

Women who experience this problem often experience ovarian failure, which means they may not have periods or have difficulty getting pregnant.

5. Learning Problems

Although most children with Turner Syndrome have a normal IQ, some may have difficulty with math and spatial skills.

What Causes Turner Syndrome?

The main cause is the loss or abnormality of the X chromosome that should be present in every cell of a female body. Every female has two X chromosomes, but in the case of Turner syndrome one of the X chromosomes is completely missing or partially non-functional.

This happens randomly during the formation of an egg or sperm cell , and there is no specific reason that can cause this to happen.

Risk Factors

Turner syndrome is not something that is inherited from families, but is the result of genetic changes that occur by chance.

Therefore, there are no specific risk factors that can increase a person’s chances of developing it. However, it is more likely to occur in individuals with older mothers, but again, this occurrence is very rare.

Diagnosis and Treatment

Doctors can usually diagnose Turner Syndrome based on the physical characteristics of the child. However, to confirm the diagnosis, several tests are needed.

One of these is a blood test, where a small sample of blood is taken and examined to see if one X chromosome is missing. From there, the doctor will count the number of chromosomes in the blood cells  and assess their shape and size.

All of this is known as the “human phenotype.” In addition, other tests may be needed to check for other health problems, such as heart or kidney problems, which are often associated with Turner Syndrome.

How Are Turner Syndrome Patients Treated?

Treatment for Turner Syndrome usually involves hormone therapy, which aims to help the body readjust.

Hormones are chemicals in the body that control growth and many other functions. For example, growth hormone can help increase growth rate, giving you the opportunity to add a few inches to your height.

When entering puberty, female hormones will be given to stimulate physical development, such as breast growth and the start of menstruation.

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Additionally, if there are heart or kidney problems, certain medications may be needed. Specialists, including geneticists and endocrinologists , will work with the doctor to ensure the best treatment is chosen, to help the patient live a healthier life.

mayo clinic, cleveland clinic

Republished with permission from theAsianParent Malaysia

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