Klinefelter Syndrome: A Genetic Condition Affecting Males

Klinefelter syndrome is a genetic condition that affects only males.

Here’s what you should know about the causes, symptoms, and treatment options for the condition.

What Is Klinefelter Syndrome?

An illustration of chromosomes.

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Klinefelter syndrome is a genetic abnormality that affects only males.

The incidence of Klinefelter syndrome is thought to be increasing.

Ordinarily we have 46 chromosomes, 23 from our mother and 23 from our father.

Of these, 44 are autosomes and 2 are sex chromosomes.

Putting this together, 46XX refers to a female and 46XY defines a male.

Many people are familiar with Down syndrome.Down syndromeis a trisomy in which there are three 21st chromosomes.

Klinefelter syndrome is a trisomy of the sex chromosomes.

(There are also people who havemosaic Down syndrome.)

Less common are other combinations of sex chromosomes such as 48XXXY or 49XXXXY.

In addition to Klinefelter syndrome and Down syndrome, there areother human trisomies.

In a nondisjunction, the genetic material is improperly separated.

Symptoms of Klinefelter Syndrome

Many men can live with an extra X chromosome and experience no symptoms.

Keep in mind that there are many causes of low testosterone levels in men in addition to Klinefelter syndrome.

National Institute of Child Health and Human Development.Klinefelter syndrome.

National Library of Medicine.

2017;40(7):705-712. doi:10.1007/s40618-017-0619-9