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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

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