Children

Everything You Need to Know About Turner Syndrome

Oct 28 , 2020

Turner syndrome is a disease that is seen only in women and can be the reason behind many abnormalities. There is still a lot that people don’t know about this syndrome.

What is Turner syndrome?

It is a genetic abnormality that develops when the X chromosome is not present or is missing partially. It is diagnosed by chromosome analysis, also called karyotype testing. A karyotype is usually performed on blood. 

Symptoms 

The symptoms may range from person to person and may even start to appear after a certain age. Common symptoms include abnormal growth, underdeveloped ovaries, abnormal physical features, heart abnormalities, and heart defects. 

Before birth, possible symptoms include abnormal fluid collection, heart defects, and abnormal functioning of kidneys. After delivery and infancy, the symptoms may include  broad chest and widely apart nipples, the roof of the mouth being narrow, abnormality in arms, widely spaced fingernails and toenails, cardiac defects, and lower hairline.

Causes

The cause of this genetic abnormality is the absence of an X chromosome that may have happened due to genetic alterations. This can cause problems during fetal development and hence the female child shows poor growth and development. 

Health risks 

There are physical features that are common in girls/women with TS. Not all girls/women will have all the characteristics. They include:

  • Short stature (typically under 5 feet tall)
  • Low hairline
  • Receding lower jaw
  • Short and webbed neck
  • Scoliosis
  • Puffy hands and feet
  • Increased carrying angle of elbows
  • Narrow and high arched palate
  • Broad chest
  • Flat feet

A child with Turner syndrome is at high risk for developing:  Absent/delayed puberty
Premature ovarian insufficiency (“early menopause”)
Fertility problems due to lack of eggs
Hearing problems
Heart and blood vessel defects
Ear infections
Kidney problems
Thyroid problems
Diabetes
Potential for learning difficulties

Can TS be cured or treated?

It is a genetic disorder and cannot be cured. Knowing early symptoms can help you make the right decision and seek medical help.

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