3-beta-hydroxysteroid dehydrogenase deficiency

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Disease overview

Caused by changes (mutations) in the HSD3B2 gene and is inherited in an autosomal recessive manner leading congenital adrenal hyperplasia

Common symptoms

Abnormal salt reabsorptiondehydrationpoor feedingvomitingabnormalities of the external genitaliainfertilityirregular menstruationhirsutismcongenital adrenal hyperplasia

WHEN TO SUSPECT

  • Recommendation 1

    Mutation analysis by Sanger sequencing and hormonal testing

HOW TO TEST

  • Recommendation 1

    Mutation analysis by Sanger sequencing and hormonal testing

TREATMENT

  • Recommendation 1

    Replacement of glucocorticoids, mineralocorticoids, plus the addition of sex steroids at appropriate, pubertal age

PRIMARY CARE

FURTHER SUPPORT

  • Recommendation 1

    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

  • Recommendation 1

    Various studies currently recruiting

Sources

No data available

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