3-beta-hydroxysteroid dehydrogenase deficiency
Other Names for this Disease
- Adrenal hyperplasia 2
- Adrenal hyperplasia II
- 3b-hydroxysteroid dehydrogenase deficiency
- HSD3B deficiency
- 3-beta-HSD deficiency
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People with the salt-wasting form of 3-beta–hydroxysteroid dehydrogenase (3BHSD) deficiency need replacement of glucocorticoids, mineralocorticoids, and sex steroids. This may include:
- Oral hydrocortisone (or other glucocorticoid) - hydrocortisone tablets are the preferred choice for treatment. In children, premixed, oral suspensions of hydrocortisone and long-acting glucocorticoid preparations should be avoided.
- Mineralocorticoid replacement by oral fludrocortisone acetate - those with non–salt-losing forms do not need mineralocorticoid replacement.
- Sex steroid replacement at puberty for those with a complete deficiency - including testosterone in males and cyclic estrogen-progesterone therapy in females. This promotes development of secondary sexual characteristics in both males and females, and cyclic menstrual bleeding in females with normal female chromosomes.
Last updated: 2/22/2016
- J Paul Frindik. 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Medscape Reference. February 11, 2014; http://emedicine.medscape.com/article/920621-overview.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.