Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

17-beta hydroxysteroid dehydrogenase 3 deficiency


Other Names for this Disease

  • 17 alpha ketosteroid reductase deficiency of testis
  • 17 alpha KSR deficiency
  • 17 beta hydroxysteroid dehydrogenase III deficiency
  • Male pseudoherma-phroditism with gynecomastia
  • Neutral 17 beta hydroxysteroid oxidoreductase 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.

Overview

17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 11/9/2011

References

  1. 17-beta hydroxysteroid dehydrogenase 3 deficiency. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenase3deficiency. Accessed 11/9/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about 17-beta hydroxysteroid dehydrogenase 3 deficiency. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on 17-beta hydroxysteroid dehydrogenase 3 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 17-beta hydroxysteroid dehydrogenase 3 deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 17 alpha ketosteroid reductase deficiency of testis
  • 17 alpha KSR deficiency
  • 17 beta hydroxysteroid dehydrogenase III deficiency
  • Male pseudoherma-phroditism with gynecomastia
  • Neutral 17 beta hydroxysteroid oxidoreductase 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.