Klinefelter syndrome : Symptoms,Treatments,Diagnosis

Klinefelter syndrome genetic disorder mostly affects men and occurs when a baby boy is born carrying one or even extra X chromosome.When men have one extra X chromosome or excess X chromosome, it can affect the male oriented traits in them.

There are many men who never come to know that they have extra X chromosomes and continue to lead a normal life.

Symptoms of Klinefelter Syndrome

• Some men with this syndrome do not have any symptoms at all whereas some men may have womanly physical traits such as enlarged breasts, sparse body hair and wide hips.
• In all the men with this syndrome, the testicles are small whereas in rare cases the penis do not grow to an adult size and the voices are not as deep as usually are in men.
• Although they cannot become a parent, they can enjoy normal sex life.
• Some boys with this syndrome can face learning and language problems.

Diagnosis/Tests

• This syndrome is usually not diagnosed until the boy reaches puberty.
• When after attaining puberty, the testicles stop growing and the growth of the penis is stunted, this problem can come to the fore.
• Doctors go through the history of the child and recommend physical examination and karyotype- a type of chromosome test.
• Prenatally it can be detected through several genetic tests such as chorionic villus sampling or amniocentesis.
• After reaching adulthood, doctors may recommend tests like semen analysis to confirm presence of Klinefelter syndrome.

Treatments

• Males having this syndrome are treated with testosterone hormone to develop their sexual organs.
• The treatment when started at the time of puberty can encourage normal body development and the boy can grow into a normal adult with well-developed sex organs.
• The testosterone hormones are supplied in the body through injection, gel or skin patch and have to be continued all through life.
• However, this still does not cure infertility in men.
• Speech therapy is recommended in boys who have learning and language problems.

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