Primary care
Recommendation 1
Specialist referrals and therapy
5-alpha reductase deficiency
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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).
Common symptoms
Ambiguous genitaliabifid scrotumcryptorchidishypoplasia of penisdecreased fertilityperineal hypospadiassmall scrotum
When to suspect
Recommendation 1
Estimation of the ratio between testosterone to DHT after stimulation with human chorionic gonadotropin (hCG).
How to test
Recommendation 1
Estimation of the ratio between testosterone to DHT after stimulation with human chorionic gonadotropin (hCG).
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
Testosterone therapy and corrective surgery
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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