Klinefelter syndrome

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Klinefelter syndrome
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Infertility, small testicles, tall stature, gynecomastia, reduced muscle mass, reduced facial and body hair
Complications N/A
Onset Puberty
Duration Lifelong
Types N/A
Causes Genetic disorder
Risks Advanced maternal age
Diagnosis Karyotype analysis
Differential diagnosis N/A
Prevention N/A
Treatment Testosterone replacement therapy, fertility treatment, speech and language therapy
Medication N/A
Prognosis N/A
Frequency 1 in 500 to 1 in 1,000 male births
Deaths N/A


Klinefelter syndrome is a genetic disorder that affects males. It is caused by the presence of an extra X chromosome, resulting in a 47,XXY karyotype. This condition is named after Harry Klinefelter, who first described it in 1942.

Signs and symptoms[edit | edit source]

Individuals with Klinefelter syndrome may exhibit a variety of symptoms, including:

Causes[edit | edit source]

Klinefelter syndrome is caused by a random error during the formation of reproductive cells (eggs and sperm). This error results in a male having an extra copy of the X chromosome. The condition is not inherited but occurs as a random event.

Diagnosis[edit | edit source]

Diagnosis of Klinefelter syndrome is typically confirmed through karyotype analysis, which reveals the presence of an extra X chromosome. This test is often performed when a male presents with symptoms such as infertility or gynecomastia.

Treatment[edit | edit source]

While there is no cure for Klinefelter syndrome, treatment can help manage symptoms. Common treatments include:

Epidemiology[edit | edit source]

Klinefelter syndrome is one of the most common chromosomal disorders, affecting approximately 1 in 500 to 1 in 1,000 male births. The condition is often underdiagnosed, as many individuals may have mild symptoms or remain asymptomatic.

See also[edit | edit source]

References[edit | edit source]



External links[edit | edit source]

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