Klinefelter’s syndrome refers to a condition that affects men with an additional X chromosome. It is also called the Klinefelter syndrome or the 47, XXY or the XXY. This syndrome affects men in different stages of social, physical and language development.
It is a set of the symptoms that result from a genetic disorder that is caused by the extra X chromosome in a standard male human karyotype. It can also occur in a standard human female with an extra Y chromosome in a complete set of 47 chromosomes instead of 46 chromosomes that are found in a typical human being.
Due to this additional chromosome, individual males with one Y chromosome are considered as males genetically. However, this phenotype might be female, male or intersex. The chromosomal make up of females is usually XX. However, people with Klinefelter’s syndrome have two or more X chromosomes and a Y chromosome.
The chromosome constitution or karyotype ranges from 1:500 to 1:100 in males. However, most people with this karyotype do not depict its symptoms. In people where the physical characteristics that are associated with this syndrome appear, they usually appear after the start of puberty.
47, XXY sex chromosome aneuploidy is the most apparent in humans. This is followed by Down syndrome which results from extra chromosomes. Other animals such as mice also have XXY syndrome. The main effects of this syndrome include sterility and hypogonadism.
Klinefelter syndrome affects one male baby in 450 male births. This makes it a common form of chromosomal variation. Nevertheless, only about a quarter of those with this syndrome are diagnosed with it. This is because in some cases the extra X chromosome does not have any influence on sexual orientation of a person.
Symptoms of Klinefelter syndrome vary greatly in childhood. They can be more obvious or mild. However, they are more apparent in children that have other conditions or those without an underlying diagnosis. This makes it difficult for parents and health practitioners to detect the syndrome at an early stage.
A boy that is suffering from Klinefelter’s syndrome can be taller than the other boys of similar age. He can also have more fat in the belly region. Other traits that a boy that is suffering from Klinefelter’s syndrome can depict include smaller penis and testes, breast growth, less body and facial hair, wider hips and narrower shoulders, reduced tone of the muscles, weaker bones, lower energy and decreased interest in sex.
Males with Klinefelter syndrome also have problems in language and learning. They can be shy and quiet as well as have difficulties in fitting in the society. Klinefelter syndrome can be diagnosed with a genetic test. It does not have a cure but there are treatments. Treatments should be started early because this enables the sufferers to grow as the other boys and to lead normal lives.
Among the treatments for Klinefelter syndrome include therapy that replaces testosterone hormone and surgery that reduces breasts. If necessary, physical, language, occupational and speech therapy can also be used.
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