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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 deficiency is a form of congenital adrenal hyperplasia which refers to a group of conditions that interfere with the body's ability to make hormones. More specifically, people with this condition lack many of the hormones made in the gonads (testes in males; ovaries in females) and the adrenal glands. The signs and symptoms present in each person depend on many factors including the type of 3-beta-hydroxysteroid dehydrogenase deficiency (there are three distinct forms), the age of diagnosis, and the sex of the affected person. In general, the salt-wasting form is the most severe type and can even be life-threatening. People with this form are generally diagnosed at birth based on 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. 3-beta-hydroxysteroid dehydrogenase 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.

In Depth Information

  • 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.