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Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome.
Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes
called XXY syndrome.
Men with Klinefelter usually don’t know they have it until they run into problems trying to have
a child. There’s no cure, but it can be treated.
The syndrome was named after American endocrinologist Harry Klinefelter, who in 1942
worked with Fuller Albright and E. C. Reifenstein at Massachusetts General Hospital in Boston,
Massachusetts, and first described it in the same year. The account given by Klinefelter came to
be known as Klinefelter syndrome as his name appeared first on the published paper, and
seminiferous tubule dysgenesis was no longer used. Considering the names of all three
researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome In 1956 it
was discovered that Klinefelter syndrome resulted from an extra chromosome. Plunkett and Barr
found the sex chromatin body in cell nuclei of the body. This was further clarified as XXY in
1959 by Patricia Jacobs and John Anderson Strong. The first published report of a man with a
47,XXY karyotype was by Patricia Jacobs and John Strong at Western General Hospital in
Edinburgh, Scotland, in 1959. This karyotype was found in a 24-year-old man who had signs of
KS. Jacobs described her discovery of this first reported human or mammalian chromosome
aneuploidy in her 1981 William Allan Memorial Award address.
This syndrome, evenly distributed in all ethnic groups, has a prevalence of one to two per every
1000 males in the general population it is estimated that only 25% of the individuals with
Klinefelter syndrome are diagnosed throughout their lives. 3.1% of infertile males have
Klinefelter syndrome. The syndrome is also the main cause of male hypogonadism.
In this condition get the extra X chromosome by chance. Either the egg or the sperm that came
together to create an extra X chromosome. Older women have a slightly higher chance of having
a boy with XXY syndrome, but the chance is small.
Men with Klinefelter may have:
An extra X chromosome in every cell, which is the most common
An extra X chromosome in only some cells, called mosaic Klinefelter, in which you don’t
have as many symptoms
More than one extra X chromosome, which is very rare and more severe
More quiet than usual
Slower to learn to sit up, crawl, and talk
Testicles that haven’t dropped into the scrotum
A hard time making friends and talking about feelings
Low energy levels
Problems learning to read, write, and do math
Shyness and low confidence
Larger breasts than normal
Less facial and body hair, and it comes in later
Less muscle tone, and muscles grow slower than usual
Longer arms and legs, wider hips, and a shorter torso than other boys their age
Puberty never comes, comes later, or doesn’t quite finish
Small penis and small, firm testicles
Taller than usual for the family
Infertility (can’t have children because they can’t make enough sperm)
Low sex drive
Low testosterone levels
Problems getting or keeping an erection
1- History Collection
2- Physical Examination
3- Hormone testing. Blood or urine samples can reveal abnormal hormone levels that are a
sign of Klinefelter syndrome.
4- Chromosome analysis. Also called karyotype analysis, this test is used to confirm a
diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape
and number of chromosomes.
There's no cure for Klinefelter syndrome, but some of the problems associated with the condition
can be treated if necessary.Possible treatments include:
Testosterone replacement therapy -worksbyincreasingaboy's testosteronelevelsintothe
normal range.Additional testosterone canhelpaboywithklinefeltersyndrome developbigger
musclesanda deepervoice,aswell aspromote growthof the penisandfacial andbodyhair. It
can alsohelpimprove bone densityandreduce the growthof a boy'sbreasts. Testosterone
therapycannotincrease the size of a boy'stesticlesorpreventorreverse infertility.
Speech and language therapy during childhood to help with speech development
Educational and behavioural support at school to help with any learning difficulties or
occupational therapy to help with any co-ordination problems associated with dyspraxia
physiotherapy to help build muscle and increase strength
Psychological support for any mental health issues
fertility treatment – options include artificial insemination using donor sperm or
possibly intracytoplasmic sperm injection (icsi), where sperm removed during a small
operation are used to fertilise an egg in a laboratory
breast reduction surgery to remove excess breast tissue