Name of the Condition

• Klinefelter Syndrome, Unspecified
• Also known as XXY syndrome or 47,XXY

Summary

Klinefelter Syndrome is a genetic condition affecting males, characterized by an extra X chromosome. This can lead to a range of physical, developmental, and reproductive challenges, though symptoms can vary widely among individuals.

Causes

Klinefelter Syndrome is caused by the presence of an additional X chromosome (XXY) in males. It occurs as a random event during the formation of reproductive cells.

Risk Factors

• Family history does not significantly increase risk as it occurs randomly.
• Advanced maternal age may slightly raise the risk.

Symptoms

• Reduced muscle mass
• Less facial and body hair
• Enlarged breast tissue (gynecomastia)
• Infertility
• Learning difficulties or delayed speech and language development

Diagnosis

• Karyotype analysis to detect the extra X chromosome
• Hormone testing to assess levels of testosterone
• Physical examination to evaluate symptoms

Treatment Options

• Testosterone replacement therapy to help develop physical traits such as muscle and hair
• Speech and physical therapy to assist with language and muscle development
• Fertility treatment options, although not always effective
• Psychological support for emotional and social well-being

Prognosis and Follow-Up

• With appropriate treatment, individuals may lead healthy lives but should regularly monitor their health.
• Lifelong follow-up is recommended for managing symptoms and potential complications.

Complications

• Osteoporosis
• Breast cancer
• Metabolic disorders such as type 2 diabetes
• Psychological issues, including depression or anxiety

Lifestyle & Prevention

• Regular exercise and a balanced diet can improve physical and mental health.
• Early therapeutic intervention may help manage cognitive and developmental issues.

When to Seek Professional Help

• Delayed puberty or slow growth in boys
• Difficulty with speech and learning in childhood
• Infertility or reduced sexual function in adults

Additional Resources

• National Institute of Child Health and Human Development
• Genetic and Rare Diseases Information Center (GARD)
• Klinefelter Syndrome & Associates

Tips for Medical Coders

• Ensure accurate representation by verifying the correct ICD code Q98.4 for unspecified cases.
• Be vigilant for coding additional symptoms or related conditions that might require separate codes.