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
- 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 17-ketoreductase 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.
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- Genetics Home Reference (GHR) contains information on 17-beta hydroxysteroid dehydrogenase 3 deficiency. This website is maintained by the National Library of Medicine.
- 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.
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