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| Disease found: | 21-hydroxylase deficiency |
| Current as of: | October 8, 2024 |
| 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. [more info] |
| Signs and Symptoms: | Ambigous genitalia, early puberty, excess hair growth, short stature as adults and decreased fertility [more info] |
| Diagnosis: | Newborn screening (available in all 50 states), clinical symptoms, biochemical and genetic testing (FISH) [more info] |
| Treatment: | Patients take replacement steriods such as glucocorticoids and mineralocorticoids [more info] |
| Clinical Management: | Appropriate referral to endocrinologist and continuation of steriod therapy [more info] |
| Referral: | 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: | Numerous studies to sign up for here |