Klinefelter's Syndrome
Also called: XXY male
Klinefelter's syndrome is a condition that occurs in men who have an extra X chromosome in most of their cells. The syndrome can affect different stages of physical, language and social development. The most common symptom is infertility. Because they often don't make as much of the male hormone testosterone as other boys, teenagers with Klinefelter's syndrome may have less facial and body hair and may be less muscular than other boys. They may have trouble using language to express themselves. They may be shy and have trouble fitting in. There generally are no obvious signs of Klinefelter syndrome until puberty. At this time, boys with Klinefelter syndrome often do not have the increase in testosterone levels that normally occurs.
Affected males are almost always effectively infertile although advanced reproductive assistance is sometimes possible.
a lanky youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue). Gynecomastia is present to some extent in about a third of affected individuals, a slightly higher percentage than in the XY population, but only about 10% of XXY males' gynecomastia is noticeable enough to require surgery.
The term "hypogonadism" in XXY symptoms is often misinterpreted to mean "small testicles" or "small penis". In fact, it means decreased testicular hormone/endocrine function. Because of this hypogonadism, patients will often have a low serum testosterone level. Despite this misunderstanding of the term, however, it is true that XXY men often also have "microorchidism" (i.e. small testicles).
The more severe end of the spectrum of symptom expression is also associated with an increased risk of germ cell tumors, breast cancer, and osteoporosis, risks shared to varying degrees with females. Additionally, medical literature shows some individual case studies of Klinefelter's syndrome coexisting with other disorders, such as pulmonary disease, varicose veins, diabetes mellitus, and rheumatoid arthritis, but possible correlations between Klinefelter's and these other conditions are not well characterized or understood.
The only reliable method of identification is karyotype testing. 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.
Klinefelter syndrome is a sex-linked genetic disorder. Humans have 2 sex determining chromosomes: the X chromosome and Y chromosome. Men are XY and women are XX. Only men have a Y chromosome. However males affected with Klinefelter syndrome have two X chromosomes and a Y chromosome
It is important to start treatment as early as possible. With treatment, most boys grow up to have normal sex lives, successful careers and normal social relationships. Treatments include
Educational services
Physical, speech and occupational therapy
Medical treatments including testosterone replacement
Without testosterone therapy, most adult patients may become obese.