17-beta hydroxysteroid dehydrogenase 3 deficiency
Other Names for this Disease
- 17 alpha ketosteroid reductase deficiency of testis
- 17 alpha KSR deficiency
- Neutral 17 beta hydroxysteroid oxidoreductase deficiency
- Male pseudoherma-phroditism with gynecomastia
- 17 beta hydroxysteroid dehydrogenase III deficiency
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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.17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are
Last updated: 11/9/2011
- 17-beta hydroxysteroid dehydrogenase 3 deficiency. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenase3deficiency. Accessed 11/9/2011.
- Genetics Home Reference (GHR) contains information on 17-beta hydroxysteroid dehydrogenase 3 deficiency. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.