Sindrome de klinefelter xxy pdf

Apr 29, 20 diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Chromosomes are packages of genes found in every cell in the body. During childhood, and even during early puberty, pituitary. Klinefelter syndrome an overview sciencedirect topics. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome and its variants are the most common forms of sex chromosome aneuploidy, with a reported incidence of 1 in 500 to 1 in live births. Diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby.

The primary features are infertility, small testicles and hypogonadism. Sometimes, symptoms are more prominent and may include weaker muscles, greater height. Klinefelter syndrome ks is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. Klinefelter s syndrome ks results from a genetic deficiency kariotype 47, xxy that can lead to hypergonadotropic hypogonadism, azoospermia and underdevelopment of secondary sex characteristics. Normalmente varones tienen solamente una copia del cromosoma y y tienen 46 cromosomas total. Klinefelter syndrome sometimes called klinefelters, ks or xxy is where boys and men are born with an extra x chromosome. Often, symptoms may be subtle and many people do not realize they are affected. For males in which klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theklinefelter syndrome diagnosis. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. Chapple j, 47, xxy klinefelter syndrome and 47, xxy.