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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the SRD5A2 gene cause 5-alpha reductase deficiency. The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. Specifically, the steroid 5-alpha reductase 2 enzyme is responsible for a chemical reaction that converts the hormone testosterone to DHT. DHT is essential for the normal development of male sex characteristics before birth, particularly the formation of the external genitalia.</p><p>Variants in the SRD5A2 gene prevent steroid 5-alpha reductase 2 from effectively converting testosterone to DHT in the developing reproductive tissues. These hormonal factors underlie the changes in sexual development seen in infants with 5-alpha reductase deficiency.</p><p>During puberty, the testes produce more testosterone. Researchers believe that people with 5-alpha reductase deficiency develop secondary male sex characteristics in response to higher levels of this hormone. Some affected people also retain a small amount of 5-alpha reductase 2 activity, which may produce DHT and contribute to the development of secondary sex characteristics during puberty.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes 5-alpha reductase deficiency?"},{"bodyHtml":"<p>Many people with 5-alpha reductase deficiency have external genitalia that appears female. In other cases, affected infants have male-typical external genitalia, often an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). Still other affected infants have external genitalia do not look clearly male or clearly female.</p><p>During puberty, an increase in the levels of male sex hormones leads to the development of some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) may grow larger. People with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected individuals are unable to have biological children (infertile) without assisted reproduction.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"5-alpha-reductase-deficiency","sourceDocuments":[{"name":"5-alpha reductase deficiency","reviewed":"2008-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:58.962692+00:00","label":"Causes","pageSha256":"a25885b4e2e325c3f16cf99aa83ab2b4649cdfe3bca167e942937108e8619d98","sourceUrl":"https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"5-alpha reductase deficiency"},"schemaVersion":1}