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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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Overview

3-beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a form of congenital adrenal hyperplasia, a group of conditions that interfere with the body's ability to make hormones. People with this condition lack many of the hormones made in the gonads (testes or ovaries) and the adrenal glands. There are three types of 3BHSD deficiency - the salt-wasting form, non-salt-wasting form, and non-classic form. Signs and symptoms depend on the type of 3BHSD deficiency; the age at diagnosis; and the sex of the affected person. The salt-wasting form is the most severe type and can even be life-threatening. People with this form are generally diagnosed at birth due to symptoms related to abnormal salt reabsorption (i.e. dehydration, poor feeding, vomiting). Males with any form of the condition often have abnormalities of the external genitalia and are frequently infertile. Females with the condition may have slight genital abnormalities at birth, but often go on to experience irregular menstruation, hirsutism, and infertility as they get older. 3BHSD deficiency is caused by changes (mutations) in the HSD3B2 gene and is inherited in an autosomal recessive manner. Treatment varies but may include medications and/or surgery.[1][2]
Last updated: 11/17/2015

References

  1. 3-beta-hydroxysteroid dehydrogenase deficiency. Genetics Home Reference. April 2015; http://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency.
  2. Pang S. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am. March 2001; 30(1):81-99.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 3-beta-hydroxysteroid dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 3-beta-hydroxysteroid dehydrogenase deficiency. Click on the link to view a sample search on this topic.
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.