Highlight text to provide feedback
| Disease found: | 5-alpha reductase deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal recessive condition that primarily affects male sexual development before birth and during puberty. Their bodies, do not produce enough of a hormone called dihydrotestosterone (DHT). [more info] |
| Signs and Symptoms: | Ambiguous genitalia, bifid scrotum, cryptorchidis, hypoplasia of penis, decreased fertility, perineal hypospadias, small scrotum [more info] |
| Diagnosis: | Estimation of the ratio between testosterone to DHT after stimulation with human chorionic gonadotropin (hCG). [more info] |
| Treatment: | Testosterone therapy and corrective surgery [more info] |
| Clinical Management: | Specialist referrals and therapy [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 |