Turner Syndrome

Turner syndrome is a disorder that is caused due to the presence of partial or missing sex chromosomes. It tends to affect only women and girls. Turner syndrome can lead to a number of developmental and medical difficulties such as failure to start puberty, cardiac abnormalities, short stature, some learning deficiencies and infertility.

Turner syndrome is generally detected at the time of infancy or early childhood. At times, if the signs and symptoms of Turner syndrome are mild, then the condition may be diagnosed at a later stage in affected women and girls.

A majority of the women and girls affected by Turner syndrome require continuing medical help from various specialists. Proper medical care and regular checkups can assist the affected girls and women to lead moderately independent and healthy lives.

Symptoms of Turner syndrome

The symptoms of Turner syndrome as per the life stages are discussed below:

• After birth or during infancy: The symptoms may differ in varying degrees in girls affected by Turner syndrome. Some may elicit very early signs of impaired growth and physical defects. The symptoms include:
  • The neck has a web-like or wide look to it
  • The palate is narrow and high
  • The jaw is usually tiny and tapering
  • The ears are low set
  • The eyelids tend to droop
  • Affected girls may experience increased sensitivity to noise
  • The hairline at the back of the head may be receding or low
  • The chest is broad and the nipples are spaced widely
  • The arms can twist outwards at the elbows
  • The toes and fingers tend to be short
  • The fingernails slant upwards
  • The birth height may be somewhat smaller than normal
  • Swelling of the hands and feet, especially at birth
  • The hands and feet may be swollen, particularly at birth
  • The growth is usually delayed
  • In adolescents, older girls and young women: The symptoms of Turner syndrome at these stages of life include the following:
    • The affected girls may not experience the growth spurts during expected stages in childhood
    • Presence of learning deficits, especially with learning that has math or spatial models. Intelligence is generally not affected and is normal
    • Women with Turner syndrome are short-statured. The affected women may be nearly 20 centimeters shorter than the average height of the female members in the family.
    • The menstrual cycles may end early and this is not due to pregnancy
    • Problems in social circumstances, wherein the affected girls and women may experience difficulties in comprehending others reactions and emotions
    • The sexual growth may pause or stall
    • Sexual changes that are normally expected at the time of puberty do not occur. This is generally due to ovarian failure which may have happen at the time of birth or at any other stages of young life
    • A majority of the women affected Turner syndrome, find it difficult to conceive without fertility treatments.

Causes of Turner syndrome

Normally all humans are born with 2 sex chromosomes. A boy inherits the Y chromosome from the father and the X chromosome from the mother, while a girl child inherits a single X chromosome for each parent

A girl affected by Turner syndrome tends to have a missing or incomplete copy of one of the X chromosomes. This is what causes Turner syndrome in girls and women. The alteration or loss of a copy of the X chromosome is due to random events. The chance of an affected woman passing on the disorder to her daughter is highly unlikely and very rare.

The following genetic changes may occur, leading to the development of Turner syndrome:

• Mosaicism: During the initial stages of fetal growth, an error may sometimes occur at the time of cell division. This can result in some cells of the body having two full copies of the X chromosome, whereas some other cells may have just a single copy of the X chromosome or may have one complete copy along with one mutated copy of the X chromosome. This condition is known as mosaicism
• Monosomy: This is a condition wherein only a single copy of the X chromosome is present in every cell of the body. This is generally caused due to the presence of an error in the maternal egg or the paternal sperm.
• Y chromosome material: In rare case, a few girls and women may have certain cells that contain only a single copy of the X chromosome, while other cells may have a single copy of the X chromosome as well as some Y chromosome material. The affected people grow as girls, but they are at increased risk to develop a form of cancer known as gonadoblastoma

 Turner Syndrome Treatment

• The major treatment for Turner syndrome is hormone therapy.
• Growth hormone therapy is necessary to increase the growth in the affected girls.
• Estrogen therapy may be needed for the affected girl child to achieve puberty and attain complete sexual development. This therapy may be required till the affected woman reaches menopause.
• Regular medical care is necessary for overcoming the various complications of Turner syndrome that may make an appearance, later in life. Some such complications include hearing loss, diabetes, hypertension and osteoporosis
• Fertility treatment may be necessary for those women with Turner syndrome, who cannot conceive due to ovarian failure.