47xxy Syndrome
Published on Mar 22, 2016
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PRESENTATION OUTLINE
47 XXY
(klinefelter syndrome)
What is 47 XXY?
47 XXY is a genetic condition caused when someone has 2 X chromosomes and one Y chromosome.
It affects male physical and cognitive development.
HOW COMMON IS IT?
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CHARACTERISTICS OF 47 XXY
- taller than average/ longer arms + legs
- learning disabilities
- less muscular bodies
- more belly fat + wide hips
47 XXY INFO
- affected individuals' testes do not produce enough testosterone
- testosterone is the horomone that directs male sexual development
- a shortage of testosterone can results in incomplete puberty, as well as..
- breast enlargement, reduced facial and body hair, and infertility
WHAT IS 47 XXY (CONTINUED)...
- people with this are considered genetic males due to the Y chromosome
- most will develop as males, not knowing they have an extra X chromosome
- some will develop the subtle characteristics of this syndrome, but..
- a small proportion will develop as intersex or female
- physical characteristics will appear around puberty
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MEDICAL CONDITIONS ASSOCIATED WITH 47 XXY
- osteporosis (weak bones)
- varicose veins (swollen veins filled with abnormal collection of blood)
- type 2 diabetes
- heart valve defects
- just as likely as xx femalesto develop breast cancer
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HOW IS 47 XXY DIAGNOSED?
- if suspected of having 47 xxy, doctors will use a karyotype
- karyotype= analysis of a patients chromosomes tsken from blood sample
- can also be diagnosed during pregnancy...
- ...doctors will look for chromosomal abnormalities in the cells of the amniotic fluid
- as many as 75% of individuals are never diagnosed
CAN 47 XXY BE TREATED?
- most don't recieve treatment
- teens/adults who wish to be treated can be givin horomones
- the horomones used are testosterone and estrogen
- testosterone will help develop male characteristics, and estrogen female characteristics
- surgery can also remove breast tissue in males
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FUN FACTS
- no famous people have suffered from Klinefelter
- in 1942 Harry Klinefelter discovered this disease
- Klinefelter is NOT inherited;
- chromosomal mutation occurs during formation of reproductive cells
