How to Treat Klinefelter Syndrome?

  • January 19, 2024
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How to Treat Klinefelter Syndrome?

What is Klinefelter Syndrome?

Klinefelter Syndrome (KS) is a genetic disorder characterized by the presence of an additional X chromosome in individuals assigned male at birth (AMAB). Typically, individuals AMAB have 46 chromosomes, comprising one X chromosome and one Y chromosome (46, XY). However, those with Klinefelter Syndrome possess a total of 47 chromosomes, resulting in a karyotype of 47,XXY.

This congenital condition manifests differently among affected individuals, and symptoms can vary significantly. Some may receive a diagnosis early in life, while others may remain unaware of their condition until adulthood, particularly when symptoms such as infertility become apparent.

Why Does Klinefelter Syndrome Occur?

The primary cause of Klinefelter Syndrome is the presence of an extra X chromosome. This additional genetic material occurs randomly during the formation of sperm cells, and the risk of KS increases with the mother's age. Advanced maternal age is associated with an elevated likelihood of errors during the cell division process that gives rise to eggs, leading to the development of embryos with an extra X chromosome.

How is Klinefelter Syndrome Diagnosed?

Diagnosing Klinefelter Syndrome typically involves a combination of physical examinations, genetic testing, and hormone level assessments. Physical characteristics associated with KS, such as reduced muscle mass, sparse facial and body hair, and enlarged breast tissue (gynecomastia), may prompt further investigation. Genetic testing, such as a karyotype analysis, can confirm the presence of the extra X chromosome. Hormone level assessments, including testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH), help evaluate the impact of the syndrome on the endocrine system.