Klinefelter syndrome

Klinefelter syndrome
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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

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

• Infertility
• Small testicles (hypogonadism)
• Tall stature
• Gynecomastia (breast development)
• Reduced muscle mass
• Reduced facial and body hair
• Learning disabilities
• Speech and language development issues

Causes

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

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

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

• Testosterone replacement therapy to address hypogonadism and improve muscle mass, bone density, and mood.
• Fertility treatment options, such as intracytoplasmic sperm injection (ICSI), may be available for those wishing to have children.
• Speech and language therapy to assist with communication difficulties.

Epidemiology

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

• Turner syndrome
• XYY syndrome
• Genetic counseling

External links

• National Institute of Child Health and Human Development - Klinefelter Syndrome
• Mayo Clinic - Klinefelter Syndrome