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Disease found:46 XY disorder of sex development
Current as of:October 8, 2024
Disease Overview:Condition in which an individual develops from one X chromosome and one Y chromosome in each cell [more info]
Signs and Symptoms:Penoscrotal hypospadias, abnormal development of the testes, reduced to no sperm production, underdeveloped female reproductive organs [more info]
Diagnosis:Testing of testicular function by basal measurements of LH, FSH, inhibin B, anti-Mullerian hormone (AMH), and steroids [more info]
Treatment:Treatment involves surgery and hormone replacement therapy [more info]
Clinical Management:Long term hormone replacement, regular surveillance or surgery to remove abnormally developed gonads [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:Various clinical trials currently recruiting

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