Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. Read on to know more about it
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.
