2025 ICD-10-CM code Q98.4
Klinefelter syndrome, unspecified.
The medical necessity for treatment of Klinefelter syndrome stems from the hormonal imbalances and potential complications arising from the extra X chromosome. Testosterone replacement is often medically necessary to address hypogonadism, promote development of secondary sexual characteristics, and improve bone density and overall health.Other interventions, such as speech or occupational therapy, may be medically necessary to address developmental delays or learning difficulties.
Diagnosis and management of Klinefelter syndrome often involves a multidisciplinary team, including endocrinologists, geneticists, urologists, and other specialists as needed. The clinical responsibility includes genetic testing for diagnosis, hormone therapy (typically testosterone replacement), management of associated conditions, and providing support and resources for the individual and their family.
In simple words: Klinefelter syndrome is a genetic condition where males are born with an extra X chromosome. This can lead to several developmental differences, including smaller testicles, less muscle growth, and potential learning or language challenges.Many with Klinefelter's are diagnosed later in life, especially during puberty, when symptoms become more noticeable.
This code represents Klinefelter syndrome, a genetic condition affecting males characterized by an extra X chromosome (XXY).This results in small, underdeveloped testes, reduced testosterone production, and often infertility. Physical characteristics can vary, and some individuals may not be diagnosed until puberty or adulthood when symptoms like breast growth (gynecomastia), reduced body hair, and weaker muscles become more apparent. Other potential complications include learning difficulties, language delays, and an increased risk of certain health conditions like osteoporosis, diabetes, and some cancers.
Example 1: A 15-year-old male presents with delayed puberty, small testes, and gynecomastia.Genetic testing confirms a 47,XXY karyotype, leading to a diagnosis of Klinefelter syndrome., An adult male experiencing infertility undergoes genetic testing which reveals Klinefelter syndrome. He is subsequently referred to an endocrinologist for testosterone replacement therapy., A child exhibits mild learning difficulties and speech delays. Though initially attributed to other causes, further evaluation and genetic testing reveal mosaic Klinefelter syndrome.
Documentation should include relevant physical findings (e.g., small testes, gynecomastia), results of genetic testing (karyotype analysis), and any associated conditions or developmental delays.Medical necessity for testosterone therapy or other treatments should also be documented.
** Genetic counseling is often recommended for individuals diagnosed with Klinefelter syndrome and their families to discuss the implications of the condition, recurrence risks, and available management options.
- Specialties:Genetics, Endocrinology, Urology, Pediatrics
- Place of Service:Office, Inpatient Hospital, Outpatient Hospital