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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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Treatment

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How might 3-beta-hydroxysteroid dehydrogenase deficiency be treated?

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.
In people with late-onset (non-classic) 3BHSD deficiency, the need for replacement therapy varies depending on the severity of the condition. Glucocorticoid replacement suppresses excess male hormones (androgens) in children with premature onset of puberty. In pubertal and post-pubertal females with the late-onset form, glucocorticoid replacement alone may correct menstrual irregularities and infertility, and decrease hirsutism and acne.[1]
Last updated: 2/22/2016

References
  1. J Paul Frindik. 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Medscape Reference. February 11, 2014; http://emedicine.medscape.com/article/920621-overview.


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Other Names for this Disease
  • Adrenal hyperplasia 2
  • Adrenal hyperplasia II
  • 3b-hydroxysteroid dehydrogenase deficiency
  • HSD3B deficiency
  • 3-beta-HSD deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.