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Diseases

Genetic and Rare Diseases Information Center (GARD)

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5-alpha reductase deficiency


Other Names for this Disease

  • Familial incomplete male pseudohermaphroditism, type 2
  • Male pseudohermaphroditism due to 5-alpha-reductase deficiency
  • PPSH
  • Pseudovaginal perineoscrotal hypospadias
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

5-alpha reductase deficiency is an inherited condition that primarily affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT), which is critical for male sexual development. Most are born with external genitalia that appear female. In other cases, affected individuals may have ambiguous genitalia. Others may have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). This condition is caused by mutations in the SRD5A2 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 12/2/2011

References

  1. 5-alpha reductase deficiency. Genetics Home Reference. April 2008 ; http://ghr.nlm.nih.gov/condition/5-alpha-reductase-deficiency. Accessed 12/2/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 5-alpha reductase 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.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 5-alpha reductase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial incomplete male pseudohermaphroditism, type 2
  • Male pseudohermaphroditism due to 5-alpha-reductase deficiency
  • PPSH
  • Pseudovaginal perineoscrotal hypospadias
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.