5-alpha-reductase deficiency: Difference between revisions
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'''5α-Reductase deficiency''' (5-ARD) is an autosomal recessive intersex condition caused by a mutation of the 5α reductase type II gene. | '''5α-Reductase deficiency''' (5-ARD) is an autosomal recessive intersex condition caused by a mutation of the 5α reductase type II gene. | ||
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== Signs == | == Signs == | ||
Individuals with 5-ARD are born with male gonads, including testicles and Wolffian structures. They can have normal male external genitalia, ambiguous genitalia, or normal female genitalia, but usually tend towards a female appearance. As a consequence, they are often raised as girls, but usually have a male gender identity. There is a tendency towards a | Individuals with 5-ARD are born with male gonads, including testicles and Wolffian structures. They can have normal male external genitalia, ambiguous genitalia, or normal female genitalia, but usually tend towards a female appearance. As a consequence, they are often raised as girls, but usually have a male gender identity. There is a tendency towards a macro[[clitoris]] or micropenis, and the [[urethra]] may attach to the [[penis| phallus]]. | ||
If the condition has not already been diagnosed, it usually becomes apparent at puberty around age twelve with primary amenorrhoea and virilization. This may include descending of the testes, hirsutism (facial/body hair considered normal in males - not to be confused with hypertrichosis), deepening of the voice, and enlargement of the clitoris. | If the condition has not already been diagnosed, it usually becomes apparent at [[puberty]] around age twelve with primary amenorrhoea and virilization. This may include descending of the testes, hirsutism (facial/body hair considered normal in males - not to be confused with hypertrichosis), deepening of the voice, and enlargement of the [[clitoris]]. | ||
In general, individuals with 5-ARD are capable of producing viable sperm. In individuals with feminized or ambiguous genitalia, the phallus may be capable of ejaculations as well as erections, but may be insufficient for intercourse. Fertility is further compromised by the underdevelopment of seminal vesicles and prostate. | In general, individuals with 5-ARD are capable of producing viable sperm. In individuals with feminized or ambiguous genitalia, the phallus may be capable of ejaculations as well as erections, but may be insufficient for intercourse. Fertility is further compromised by the underdevelopment of [[seminal vesicles]] and prostate. | ||
== Prevalence == | == Prevalence == | ||
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[[Category:Intersex]] | [[Category:Intersex]] | ||
[[Category:From IntactWiki]] | [[Category:From IntactWiki]] | ||