2. Turner Syndrome:-
1.Turner syndrome (TS) is the result of a chromosomal
abnormality.
2.A chromosome contains genes, which determine an
individual's characteristics, such as eye color and height.
3.Girls typically have two X chromosomes (or XX), but girls
with Turner syndrome have only one X chromosome or are
missing part of one X chromosome.
4.Girls born with the X condition in only some of their
cells have mosaic Turner syndrome. Often, their signs
and symptoms are milder than those of other girls with
the non-mosaic condition.
4. What Are the Signs & Symptoms of
Turner Syndrome?
1."webbing" of the skin of the neck (extra
folds of skin extending from the tops of the
shoulders to the sides of the neck)
2.a low hairline at the back of the head
3.low-set ears
4.irregular periods or no periods (amenorrhea)
5. What Problems Can Happen?
1.Other health problems that may
happen with TS include kidney and
heart problems, high blood pressure,
obesity, diabetes mellitus, thyroid
problems, ear infections with decreased
hearing, and altered bone development.
2.Hearing problems are more common in
girls with TS.
7. How Is Turner Syndrome Diagnosed?
1.To diagnose Turner syndrome,doctors
use a special blood test that looks at
chromosomes,called a karyotype test
(chromosomal analysis).
Results that indicate TS show only one X
chromosome instead of two X
chromosomes, with a total of 45
chromosomes instead of the usual 46. Some
girls with Turner syndrome have two X
chromosomes detected, but one is missing
a piece.
8. 2.Before birth, the condition may be found
through karyotype or noninvasive prenatal
testing (NIPT). NIPT is done on the fluid
surrounding the fetus, tissue from the
placenta, or the blood from the mother. But
these tests are not definitive for diagnosis of
Turner syndrome. After birth, doctors can
make a diagnosis with a karyotype or with a
microarray test from the baby.
9.
10. How Is Turner Syndrome Treated?
Because TS is a chromosomal disorder, there's
no cure for the condition. But a number of
treatments can help:
1.Growth hormone, either alone or with
other hormone treatment, may improve
growth and will usually increase final adult
height — often into the normal range if
treatment is started early enough.
2.Cardiac surgery may be necessary to
correct specific heart defects.
11. 3.Reproductive technologies can help
women with Turner syndrome become
pregnant.
4.Estrogen replacement therapy often
begins when a girl is 12 or 13 years old to
stimulate the development of secondary
sexual characteristics (breast development
and menstrual periods).
