Syndrome de Klinefelter

Overview of Klinefelter Syndrome

Klinefelter Syndrome is a genetic condition that affects males, occurring when a boy is born with an extra X chromosome (typically XXY instead of the usual XY). This chromosomal variation impacts physical, developmental and reproductive traits. Many individuals may not realize they have it until adulthood, especially during fertility assessments. While it can't be cured, early diagnosis and supportive treatments can significantly improve the quality of life.

Types of Klinefelter Syndrome

• Classic Klinefelter Syndrome (47,XXY): The most common form, featuring one extra X chromosome.
• Mosaic Klinefelter Syndrome: A mix of typical (XY) and atypical (XXY) cells in the body; symptoms may be milder.
• Variants with more than one extra X (48,XXXY or 49,XXXXY): Rare and more severe in physical and cognitive effects.

Symptoms of Klinefelter Syndrome

Delayed or incomplete puberty.

Low testosterone levels.

Reduced muscle mass and body hair.

Taller than average height.

Breast tissue development (gynecomastia).

Small testes and infertility.

Learning difficulties or mild developmental delays.

Low energy and mood fluctuations.

Causes of Klinefelter Syndrome

Caused by a random genetic error during the formation of reproductive cells (sperm or egg).

Not inherited; occurs spontaneously.

The result is the presence of one or more extra X chromosomes in a male’s cells.

Complications in Klinefelter Syndrome

Infertility due to underdeveloped testes.

Increased risk of osteoporosis from low testosterone.

Greater chances of autoimmune disorders like lupus.

Possible breast cancer risk in rare cases.

Emotional or psychological stress due to social or identity challenges.

Risk Factors of Klinefelter Syndrome

No lifestyle or environmental factors increase risk.

The only known factor: older maternal age may slightly increase the likelihood.

It affects approximately 1 in 500 to 1,000 males.

Preventions of Klinefelter Syndrome

Currently, there is no way to prevent Klinefelter Syndrome.

Genetic counseling can help families understand the risk in case of chromosomal anomalies.

Early educational support and therapies can prevent learning difficulties from escalating.