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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