49 XXXXY syndrome

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

Non-inherited disorder ype of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males.

Common symptoms

Learning difficulties or intellectual disabilitylow muscle tonehypogonadisminfertilitydelayed growthazoospermiacarious teethhypoplasia of penis

WHEN TO SUSPECT

  • Recommendation 1

    Multiplex ligation-dependent probe amplification (MLPA) followed karyotype analysis

HOW TO TEST

  • Recommendation 1

    Multiplex ligation-dependent probe amplification (MLPA) followed karyotype analysis

TREATMENT

  • Recommendation 1

    Testosterone-based hormone therapy

PRIMARY CARE

  • Recommendation 1

    Specialist referrals, psychological and hormone therapy

FURTHER SUPPORT

  • Recommendation 1

    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

  • Recommendation 1

    Two clinical trials currently recruiting

Sources

No data available

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