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5-Alpha-Reductase Deficiency

(also: 5-ARD, PPSH, Pseudovaginal Perineoscrotal Hypospadias, Steroid 5-Alpha-Reductase Deficiency)

Table of Contents

General Information

5-ARD is an intersex variation that affects sexual development before birth and during puberty. Those who have this variation have XY chromosomes. Most people with 5-ARD have testes and produce typical levels of testosterone. Some will have a micropenis that may have proximal hypospadias. Some will have a vulva and be assigned female (possibly without being identified as intersex). Some people will be born with ambiguous genitalia. Most people with this intersex variation are infertile.

Someone with this disorder does not have the enzyme responsible for converting testosterone into the more powerful anti-androgen known as dihydrotestosterone (DHT). During puberty, someone with 5-ARD will typically develop some features assiciated with a typical testosterone-based puberty, such as increased muscle mass, depth of voice, hair growth, and possible genital growth.

This is a rare, genetically inherited condition.

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