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Disease found: | 46 XX testicular disorder of sex development |
Current as of: | October 8, 2024 |
Disease Overview: | Non-inherited condition in which a person with two X chromosomes (which is normally found in females) has a male appearance [more info] |
Signs and Symptoms: | Male external genitalia, small testes, gynecomastia, infertility due to azoospermia, low testosterone, undescended testes and hypospadias [more info] |
Diagnosis: | Diagnosis is based on clinical findings, endocrine testing, and cytogenetic testing [more info] |
Treatment: | Generally includes testosterone replacement therapy [more info] |
Clinical Management: | Long term hormone replacement and specialist referrals [more info] |
Referral: | 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: | None are available, but can sign up to be notified when one becomes available |