The survival rate of people with Turner syndrome is typically good. Life expectancy is slightly shorter than average but can be improved by treating underlying chronic illnesses, such as obesity and hypertension. Heart disease is an important cause of death in these individuals. Regular monitoring has shown considerable improvement in the quality and length of life. Turner syndrome is not the reason for mental retardation, and women with Turner syndrome may be gainfully employed. Most individuals are shorter than average, even after undergoing treatment with growth therapy. Women with Turner syndrome are mostly infertile, but pregnancy with donor embryos is possible.
What is Turner syndrome?
Turner’s syndrome is a chromosomal disorder that affects females. The disorder is characterized by the partial or complete loss of one of the second sex chromosomes (XX). The symptoms of Turner syndrome vary from women to women. Women with Turner syndrome can develop a wide variety of symptoms that affect various organs. Most women with Turner syndrome have short stature and are infertile. They may have some developmental delays, learning disabilities, and behavioral problems.
What are the signs and symptoms of Turner syndrome?
The symptoms and its intensity are quite variable from one person to another. Many symptoms develop slowly over time and can be subtle. Girls with Turner syndrome may have swollen hands and feet at birth due to a condition known as lymphedema. The symptoms of Turner syndrome include:
- Short stature that is evident by the age of 5
- Middle ear infections in early childhood and subsequent hearing loss
- Developmental delays
- Delayed puberty
- Wide, webbed neck
- Low or indistinct hairline in the back of the head
- Broad chest and widely spaced nipples
- Arms that turn out slightly at the elbow
- Heart murmur
- Scoliosis (curving of the spine)
- Kidney problems
- Underactive thyroid gland
- Osteoporosis (thinning of bone)
- Increased risk to develop diabetes
- Early menopause
- Delayed bone maturation
- High liver enzymes
- Fatty infiltration of the liver
- High blood pressure
- Retrognathia (a receding chin)
- Alopecia (hair loss)
- Ptosis (drooping eyelid)
- Vitiligo (blotchy loss of skin color)
- Heart attack
- Elevated lipids in the blood
- Atrial septal defect (opening in the wall separating the top two chambers of the heart)
- Abnormal fingernails
- Thick skin folds of the neck
What causes Turner syndrome?
Normally, females have two full X chromosomes in each of her cells whereas women with Turner syndrome have one normal X chromosome and one missing X chromosome in either all cells of the body or some cells of the body. The missing genetic material affects development before and after birth. Depending on the specific genes that are missing, the features of Turner syndrome may or may not be present. Turner syndrome is not inherited and occurs due to a random abnormality that happens during the formation of an egg or sperm cell in a parent (before conception).
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