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Disease found:49 XXXXY syndrome
Current as of:October 8, 2024
Disease Overview:Non-inherited disorder ype of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. [more info]
Signs and Symptoms:Learning difficulties or intellectual disability; low muscle tone; hypogonadism; infertility; delayed growth, azoospermia, carious teeth, hypoplasia of penis, infertility [more info]
Diagnosis:Multiplex ligation-dependent probe amplification (MLPA) followed karyotype analysis [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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