Primary care
Recommendation 1
Long term hormone replacement and specialist referrals
46 XX testicular disorder of sex development
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 condition in which a person with two X chromosomes (which is normally found in females) has a male appearance
Common symptoms
Male external genitaliasmall testesgynecomastiainfertility due to azoospermialow testosteroneundescended testes and hypospadias
When to suspect
Recommendation 1
Diagnosis is based on clinical findings, endocrine testing, and cytogenetic testing
How to test
Recommendation 1
Diagnosis is based on clinical findings, endocrine testing, and cytogenetic testing
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
Generally includes testosterone replacement therapy
Further support
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. 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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