Klinefelter’s Syndrome

Klinefelter’s Syndrome


Hello my name is Albert and I am doing my
project on Klinefelter’s Syndrome. Klinefelter’s Syndrome also known as the XXY
Syndrome is a genetic disorder that only affects the male gender. XX chromosome is characterized as female,
XY chromosome is characterized as male. Klinefelter’s Syndrome is characterized by
having Trisomy 23 chromosome on the gamete cell. The reason I chose klinefelter’s syndrome
is because it is fascinating how an individual can posses and extra X chromosome. Also regardless of the presence of an extra
X chromosome, the appearance is still decidedly masculine. This is the most common male genetic disorder. It affects every 1 in 1000 new born males.,
which is equivalent to 200,000 new cases every single year. Some physical symptoms include hypotonia,
gynocostmastia, small testicles, small penis (hypogonadism). Males affected with Klinefelt’s syndrome usually
produce a small amount of testosterone compared to the average male. They are usually infertile as well. They are more prone to develop breast cancer. Their chances of developing breast cancer
is equivalent to that of a female. Patients with more than two X chromosomes
will have more serious symptoms like osteoporosis, heart defect and poor coordination. The more X chromosomes the klinefelter’s patient
has, the more prevalent the symptoms are. Often times this genetic disorder goes unnoticed
because the symptoms resemble that of an overweight male. A person affected with Klinefelter’s syndrome
would have social or behavior issues and can be paired along with learning dissabilities. The more variant the chromosome is, the more
serious the health issue. So for example if a person with Klinefelter’s
syndrome has XXXY chromosome then they are more at risk for myocardial infractions. Klinefelter’s syndrome usually occur during
meiosis in the division of diploid cells. During normal meiosis, the sex cells will
undergo meiosis during sexual reproduction twice therefore there will be 4 gamete daughter
cell. One X chromosome in each egg. However in Klinefelter’s syndrome there is
an error during meiosis and Klinefelter’s syndrome is caused by nondisjunction in the
gamete cells during anaphase and metaphase of Meiosis 1 or Meiosis 2. If nondisjunction occurs during meiosis 1
then there are normal sex cells. One cell contains no chromosome and the last
cell contains two X chromosome. However if nondisjunction occurs during meiosis
2 the outcome would have two gamete cells with two X chromosome. If the egg contains two X chromosome and is
fertilized by a sperm, the offspring will develop into a male child with Klinefelter’s
syndrome XXY. There is no genetic disposition that can indicate
that the offspring will have klinefelter’s syndrome. The maternal age is the only risk factor associated
with a son having the syndrome. Mother’s above 40, there is a 4 fold increase
in conceiving a klinefelter’s syndrome fetus compared to a 24 year old or younger mother. There are no demographics with a higher chance,
therefore each ethnic group shares the same probability of conceiving a klinefelter’s
syndrome offspring. While it is uncommon, if a mother suspects
their child has the syndrome. A prenatal test can be done via chroionic
Villus Sampling. This is done by inserting a needle into the
mother’s stomach into the uterus. The needle then extracts about 30 mL of anmiotic
fluid, which is the fluid that surrounds the fetus during pregnancy. Inside the anmiotic fluid, there is DNA from
the fetus. A karotype can be performed and determine
the number of chromosome that the fetus has. Klinefelter’s Syndrome is not a life threatening
disease. One of the most adverse effects from Klinefelter’s
Syndrome is the low production of testosterone. Testosterone has been documented to directly
correlate with muscle mass and brain development. This is one of the reasons why doctors believe
that Klinefelter’s patients exzibit poor muscle coordination and difficulty learning. Androgen therapy has been found useful to
counteract some of the symptoms. And physicial therapy has been shown to help
with muscle weakness and coordination. Psychologist can be utilized to help with
social behavior as well. Endocrinologist can be used to prescribe hormone
therapy. Most affected males will undergo testosteone
replacement therapy during their puberty to promote masculine changes in the teenagers
body. CRISPR which is Clustered Regularly Interspaced
Short Palindromic Repeats is a new technology that can edit and remove genes. Studies have shown this is effective at removing
entire chromosome. But more tests need to be done in order to
be deemed safe. This is my reference page and thank you!

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