Turner Syndrome
What is Turner syndrome?
Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function.
Other features of this condition that can vary among women who have Turner
syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the
hands and feet, skeletal abnormalities, heart defects and kidney problems.
This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).
Turner syndrome is a chromosomal condition related to the X chromosome.
Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.
What are the symptoms for Turner syndrome?
Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt.
Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at
puberty. This does not happen in most girls who have Turner syndrome. They do
not start their periods or develop breasts without hormone treatment at the age of puberty.
Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.
In early childhood, girls who have Turner syndrome may
have frequent middle ear
infections. Recurrent infections can lead to hearing loss in some cases.
Girls with Turner Syndrome are usually of normal
intelligence with good verbal skills and reading skills. Some girls, however,
have problems with math, memory skills and fine-finger movements.
Additional symptoms of Turner syndrome include the following:
- An especially wide neck (webbed neck) and a low or indistinct hairline.
- A broad chest and widely spaced nipples.
- Arms that turn out slightly at the elbow.
- A heart murmur, sometimes associated with narrowing of the
aorta (blood
vessel exiting the heart).
- A tendency to develop high blood pressure (so this should be checked regularly).
- Minor eye problems that are corrected by glasses.
- Scoliosis (deformity of
the spine) occurs in 10 percent of adolescent girls who have Turner syndrome.
- The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with
thyroid replacement.
- Older or over-weight women with Turner syndrome are slightly more at risk of developing
diabetes.
- Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking
hormone replacement therapy.
Next: How is Turner syndrome diagnosed? »
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