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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 |