Klinefelters Syndrome

What is Klinefelters Syndrome? Klinefelters Syndrome, named after Dr. Harry Klinefelter, who rst described this condition in 1942, is a condition that affects male sexual development. Human males with this condition have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern, these men have an XXY pattern. Klinefelters Syndrome is found on the sex chromosomes.

Cause The extra X chromosome is retained because of a nondisjunction event during meiosis I . Nondisjunction occurs when homologous chromosomes, the X and Y sex chromosomes specically, fail to separate, producing a sperm with an X and a Y chromosome thus fertilizing a normal (X) egg produces an XXY offspring. Another mechanism for retaining the extra X chromosome is through nondisjunction during meiosis II in the female. Nondisjunction will occur when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate. An XX egg is produced which, when fertilized with a Y sperm, yields XXY offspring.

Symptoms Males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone during puberty can lead to breast enlargement (gynecomastia,), reduced facial and body hair, and an inability to father children (infertility). Older children and adults with Klinefelter syndrome tend to be taller than other males their age such as their brothers or fathers. Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of normal adult females. Boys with Klinefelter syndrome may have learning disabilities and difculty with speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among males with this condition.

Variants Most males with Klinefelter syndrome have one extra copy of the X chromosome in each cell. Variants of Klinefelter syndrome involve more than one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. These conditions tend to have more severe signs and symptoms than classic Klinefelter syndrome. In addition to affecting male sexual development, variants of Klinefelter syndrome are associated with intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. Diagnosis Because they often don't appear any different from anyone else, many XXY males probably never learn of their extra chromosome. However, if they are to be diagnosed, chances should be at one of the following times in life: before or shortly after birth, early childhood, adolescence, and in adulthood (as a result of testing for

infertility). Before birth: Through amniocentesis or chorionic villus sampling (CVS). In amniocentesis, a sample of the uid surrounding the fetus is withdrawn. Fetal cells in the uid are then examined for chromosomal abnormalities. CVS is similar to amniocentesis, except that the procedure is done in the rst trimester, and the fetal cells needed for examination are taken from the placenta. Neither procedure is used routinely, except when there is a family history of genetic defects, the pregnant woman is older than 35, or when other medical indications are present. When the child begins school- A physician may suspect a boy is an XXY male if he is delayed in learning to talk and has difculty with reading and writing. XXY boys may also be tall and thin and somewhat passive and shy (not guaranteed). Adolescence- When excessive breast development forces them to seek medical attention because many XXY males undergo slight breast enlargement at puberty. Adulthood- As a result of testing for infertility. an examining physician may note the undersized testes characteristic of an XXY male. In addition to infertility tests, the physician may order tests to detect increased levels of hormones known as gonadotropins, common in XXY males. A karyotype is used to conrm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome. How common is Klinefelter syndrome? Klinefelter syndrome affects 1 in 500 to 1,000 males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer male births. Klinefelter syndrome does not occur in females. Can Klinefelter syndrome be inherited? This condition is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. What other names do people use for Klinefelter syndrome? Klinefelter's Syndrome 47,XXY XXY syndrome XXY trisomy