Primary care
Recommendation 1
Long term hormone replacement, regular surveillance or surgery to remove abnormally developed gonads
46 XY 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
Condition in which an individual develops from one X chromosome and one Y chromosome in each cell
Common symptoms
Penoscrotal hypospadiasabnormal development of the testesreduced to no sperm productionunderdeveloped female reproductive organs
When to suspect
Recommendation 1
Testing of testicular function by basal measurements of LH, FSH, inhibin B, anti-Mullerian hormone (AMH), and steroids
How to test
Recommendation 1
Testing of testicular function by basal measurements of LH, FSH, inhibin B, anti-Mullerian hormone (AMH), and steroids
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
Treatment involves surgery and hormone 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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