- This blog post is a quick outline on turner syndrome, also
know as monosomy X or congenital ovarian hypoplasia syndrome. This is a genetic
disorder which only affects females and is caused by a missing X chromosome. We
will be looking at what symptoms turner syndrome can cause and what treatment
is available for it.
- Turner syndrome is found in 2000 – 2500 females around the
world is associated with short stature. The syndrome is rarely inherited and is
due to defects in the formation of the embryo during pregnancy. In cases of
normal birth a baby is born with 46 chromosomes and in females the 23rd
pair consist of two X chromosomes. In the case of monosomy x TS, either the
male sperm or the female egg fails to produce the 23rd chromosome
which results in the embryo missing an X chromosome. There is another type of
Turner syndrome called Mosaic TS in which the embryo does receive 46
chromosomes but during cell division some cells may be not receive the x
chromosome, in this case the symptoms will be milder and will depend on what
part of the X chromosome is missing.
- The symptoms of Turner syndrome may differ from one girl to
another, as mentioned above the main symptom is short stature and in babies it
will show in decreased growth percentiles between four and six. There are many
other symptoms of TS, for example a few are feeding problems during early
stages in life, skeletal problems, low set ears, webbing of the neck, puffy
hands and feet and repeated ear infection.
- According to reports it is estimated that 90% of girls will
suffer ovarian failure yet if diagnosed early, TS does not stop them from
living a normal life. Unfortunately there is no cure for Turner syndrome
because it is a chromosomal disorder yet with early interventions of therapies
such as growth hormones therapy and estrogen therapy will with help with long term effects of TS.