PRIMARY CARE
Recommendation 1
Appropriate referral to endocrinologist and continuation of steriod therapy
21-hydroxylase deficiency
Not Verified
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)
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
Recommendation 1
Numerous studies to sign up for here
Sources
No data available
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