2025 ICD-10-CM code Q98.1
Klinefelter syndrome, male with more than two X chromosomes.
Medical necessity for services related to Klinefelter syndrome is established by the presence of the condition confirmed by genetic testing and the presence of associated signs, symptoms, and/or complications requiring medical intervention.
Diagnosis and management of Klinefelter syndrome typically involves endocrinologists, geneticists, and other specialists depending on the individual's specific needs.Treatment may include testosterone replacement therapy, and supportive care for any developmental or learning difficulties.Genetic counseling is important for individuals and families.
In simple words: Klinefelter syndrome is a genetic condition affecting males born with an extra X chromosome. This can lead to developmental delays, physical differences like taller height and less muscle mass, and sometimes difficulties with learning or language.
This code represents Klinefelter syndrome in males where there are more than two X chromosomes present (e.g., XXXY, XXXXY).It is characterized by various physical and developmental features, including small testes, reduced testosterone production, and potential learning difficulties.
Example 1: A male infant is found to have undescended testicles and hypotonia. Genetic testing confirms 48,XXXY karyotype. Q98.1 is used to code the Klinefelter syndrome., A teenager experiences delayed puberty and is noted to have gynecomastia. Chromosomal analysis reveals 49,XXXXY.The diagnosis is Klinefelter syndrome, coded as Q98.1., An adult male presents with infertility and low libido.Testing reveals small testes and low testosterone levels. Karyotyping shows 48,XXXY. Q98.1 is used for the Klinefelter syndrome diagnosis.
Documentation should include the results of genetic testing (karyotype analysis) confirming the presence of more than two X chromosomes in a male. Clinical findings such as small testes, gynecomastia, developmental delays, and other related symptoms should also be documented.
** This code represents a more severe form of Klinefelter syndrome than the typical 47,XXY karyotype. The severity of symptoms can vary based on the number of extra X chromosomes.
- Specialties:Genetics, Endocrinology, Pediatrics, Urology, Internal Medicine
- Place of Service:Office, Inpatient Hospital, Outpatient Hospital, Independent Clinic