Primary care
Recommendation 1
Specialist referrals, psychological and hormone therapy
49 XXXXY syndrome
Not yet reviewedThis 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
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Testosterone-based 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
Clinical Trials
Sources
No data available
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