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| Disease found: | 3-beta-hydroxysteroid dehydrogenase deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Caused by changes (mutations) in the HSD3B2 gene and is inherited in an autosomal recessive manner leading congenital adrenal hyperplasia [more info] |
| Signs and Symptoms: | Abnormal salt reabsorption, dehydration, poor feeding, vomiting, abnormalities of the external genitalia, infertility, irregular menstruation, hirsutism, congenital adrenal hyperplasia [more info] |
| Diagnosis: | Mutation analysis by Sanger sequencing and hormonal testing [more info] |
| Treatment: | Replacement of glucocorticoids, mineralocorticoids, plus the addition of sex steroids at appropriate, pubertal age [more info] |
| Clinical Management: | Mangement through hormone and steriod replacments long term [more info] |
| Referral: | CARES Foundation reccomends multiple clinics . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various studies currently recruiting |