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| Disease found: | 48 XXYY syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Non-inherited disorder characterized by the presence of an extra X and Y chromosomes in males. [more info] |
| Signs and Symptoms: | Tall stature, small testes, infertility, anxiety, aggressiveness, problems communicating, hyperactivity, depression, general learning disabilities, bone abnormalities, tremor, obesity, type 2 diabetes [more info] |
| Diagnosis: | Diagnosing 48,XXYY requires a genetic test called a karyotype. [more info] |
| Treatment: | Testosterone-based hormone therapy [more info] |
| Clinical Management: | Specialist referrals, psychological and hormone therapy [more info] |
| Referral: | AXYS reccomends various clinics and physicians . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Two clinical trials currently recruiting |