Genetic disorder: Klinefelter's Syndrome
Specific genetic mutation: The normal male chromosome number and sex chromosome composition is 46,XY. However, because males with mosaic Klinefelter syndrome have an extra X chromosome, they typically have a chromosome composition of 47,XXY.
Physical characteristics: Men with Klinefelter syndrome have small, firm testes, and they often have breast enlargement and inordinately long legs and arms.
Possible treatment:Treatment with androgens reduces gynecomastia and evidence of male hypogonadism and increases strength and libido in patients with all variants of Klinefelter syndrome.
Interesting Fact: Although males with Klinefelter's Syndrome are normal in intelligence, they have difficulties making social adjustments because of their women-like qualities.
Sources:
Specific genetic mutation: The normal male chromosome number and sex chromosome composition is 46,XY. However, because males with mosaic Klinefelter syndrome have an extra X chromosome, they typically have a chromosome composition of 47,XXY.
Physical characteristics: Men with Klinefelter syndrome have small, firm testes, and they often have breast enlargement and inordinately long legs and arms.
Possible treatment:Treatment with androgens reduces gynecomastia and evidence of male hypogonadism and increases strength and libido in patients with all variants of Klinefelter syndrome.
Interesting Fact: Although males with Klinefelter's Syndrome are normal in intelligence, they have difficulties making social adjustments because of their women-like qualities.
Sources:
- "Log in." Britannica School. N.p., n.d. Web. 04 Nov. 2015.
- "47, XXY (Klinefelter Syndrome)." 47, XXY (Klinefelter Syndrome). N.p., n.d. Web. 04 Nov. 2015.