Klinefelter's syndrome

This code represents Klinefelter's syndrome, a genetic condition affecting males characterized by the presence of an extra X chromosome (XXY karyotype). Individuals typically present with hypogonadism, infertility, and often exhibit tall stature, learning difficulties, and other developmental variations.

Use this code when documentation confirms a diagnosis of Klinefelter's syndrome, usually established through karyotype analysis. It is appropriate for both initial diagnosis and ongoing management of patients with this chromosomal abnormality. Supporting documentation should clearly state the diagnosis and any associated clinical manifestations.

• Ensure the diagnosis of Klinefelter's syndrome is explicitly documented, ideally with genetic testing results.
• Code any associated clinical manifestations, such as hypogonadism (e.g., 257.2 for other testicular hypofunction), gynecomastia (e.g., 611.1), or developmental delays, in addition to the primary syndrome code.
• This code is specific to the XXY karyotype; do not use for other sex chromosome anomalies.