Primary care
Recommendation 1
Appropriate referral to endocrinologist and continuation of steriod therapy
21-hydroxylase deficiency
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Autosomally recessive inherited disease caused by genetic changes in the CYP21A2 gene in which the missing enzyme leads to overproduction of specific hormones made by the adrenal glands.
Common symptoms
Ambigous genitaliaearly pubertyexcess hair growthshort stature as adults and decreased fertility
When to suspect
Recommendation 1
Newborn screening (available in all 50 states), clinical symptoms, biochemical and genetic testing (FISH)
How to test
Recommendation 1
Newborn screening (available in all 50 states), clinical symptoms, biochemical and genetic testing (FISH)
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
Patients take replacement steriods such as glucocorticoids and mineralocorticoids
Further support
Recommendation 1
The CARES Foundations suggests various clinicians and 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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